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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: 19-51414480-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51414480&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51414480,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033130.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1651G>C",
"hgvs_p": "p.Gly551Arg",
"transcript": "NM_033130.5",
"protein_id": "NP_149121.2",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 697,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339313.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033130.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1651G>C",
"hgvs_p": "p.Gly551Arg",
"transcript": "ENST00000339313.10",
"protein_id": "ENSP00000345243.4",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 697,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033130.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339313.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "ENST00000439889.6",
"protein_id": "ENSP00000389132.2",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 639,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439889.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1366G>C",
"hgvs_p": "p.Gly456Arg",
"transcript": "ENST00000353836.9",
"protein_id": "ENSP00000342389.5",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 602,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353836.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1192G>C",
"hgvs_p": "p.Gly398Arg",
"transcript": "ENST00000441969.7",
"protein_id": "ENSP00000408387.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 544,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441969.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "ENST00000961808.1",
"protein_id": "ENSP00000631867.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 649,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961808.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1477G>C",
"hgvs_p": "p.Gly493Arg",
"transcript": "NM_001171156.2",
"protein_id": "NP_001164627.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 639,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171156.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1381G>C",
"hgvs_p": "p.Gly461Arg",
"transcript": "ENST00000961807.1",
"protein_id": "ENSP00000631866.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 607,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961807.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1366G>C",
"hgvs_p": "p.Gly456Arg",
"transcript": "NM_001171157.2",
"protein_id": "NP_001164628.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 602,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171157.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1222G>C",
"hgvs_p": "p.Gly408Arg",
"transcript": "NM_001171158.2",
"protein_id": "NP_001164629.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 554,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171158.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1222G>C",
"hgvs_p": "p.Gly408Arg",
"transcript": "ENST00000436984.6",
"protein_id": "ENSP00000414324.2",
"transcript_support_level": 2,
"aa_start": 408,
"aa_end": null,
"aa_length": 554,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436984.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1192G>C",
"hgvs_p": "p.Gly398Arg",
"transcript": "NM_001171159.2",
"protein_id": "NP_001164630.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 544,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171159.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Gly366Arg",
"transcript": "NM_001322105.2",
"protein_id": "NP_001309034.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 512,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322105.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1096G>C",
"hgvs_p": "p.Gly366Arg",
"transcript": "ENST00000525998.5",
"protein_id": "ENSP00000431444.1",
"transcript_support_level": 2,
"aa_start": 366,
"aa_end": null,
"aa_length": 512,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525998.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "ENST00000961809.1",
"protein_id": "ENSP00000631868.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 464,
"cds_start": 952,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961809.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Gly308Arg",
"transcript": "NM_001171161.2",
"protein_id": "NP_001164632.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 454,
"cds_start": 922,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171161.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Gly308Arg",
"transcript": "ENST00000442846.7",
"protein_id": "ENSP00000395475.2",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 454,
"cds_start": 922,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442846.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Gly518Arg",
"transcript": "XM_047439600.1",
"protein_id": "XP_047295556.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 664,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "XM_047439604.1",
"protein_id": "XP_047295560.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 649,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439604.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "XM_047439601.1",
"protein_id": "XP_047295557.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 616,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1381G>C",
"hgvs_p": "p.Gly461Arg",
"transcript": "XM_005259366.6",
"protein_id": "XP_005259423.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 607,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259366.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1378G>C",
"hgvs_p": "p.Gly460Arg",
"transcript": "XM_047439602.1",
"protein_id": "XP_047295558.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 606,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.732,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033130.5",
"gene_symbol": "SIGLEC10",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "SIGLEC10-AS2",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.183C>G",
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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
}