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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: 19-51413725-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51413725&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51413725,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000339313.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Thr603Met",
"transcript": "NM_033130.5",
"protein_id": "NP_149121.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 697,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": "ENST00000339313.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Thr603Met",
"transcript": "ENST00000339313.10",
"protein_id": "ENSP00000345243.4",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 697,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": "NM_033130.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Thr545Met",
"transcript": "ENST00000439889.6",
"protein_id": "ENSP00000389132.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 639,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Thr508Met",
"transcript": "ENST00000353836.9",
"protein_id": "ENSP00000342389.5",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 602,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Met",
"transcript": "ENST00000441969.7",
"protein_id": "ENSP00000408387.2",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 544,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Thr545Met",
"transcript": "NM_001171156.2",
"protein_id": "NP_001164627.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 639,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Thr508Met",
"transcript": "NM_001171157.2",
"protein_id": "NP_001164628.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 602,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Thr460Met",
"transcript": "NM_001171158.2",
"protein_id": "NP_001164629.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 554,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Thr460Met",
"transcript": "ENST00000436984.6",
"protein_id": "ENSP00000414324.2",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 554,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Thr450Met",
"transcript": "NM_001171159.2",
"protein_id": "NP_001164630.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 544,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"transcript": "NM_001322105.2",
"protein_id": "NP_001309034.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 512,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1253C>T",
"hgvs_p": "p.Thr418Met",
"transcript": "ENST00000525998.5",
"protein_id": "ENSP00000431444.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 512,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Thr360Met",
"transcript": "NM_001171161.2",
"protein_id": "NP_001164632.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 454,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1079C>T",
"hgvs_p": "p.Thr360Met",
"transcript": "ENST00000442846.7",
"protein_id": "ENSP00000395475.2",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 454,
"cds_start": 1079,
"cds_end": null,
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"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Thr570Met",
"transcript": "XM_047439600.1",
"protein_id": "XP_047295556.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 664,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Thr555Met",
"transcript": "XM_047439604.1",
"protein_id": "XP_047295560.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 649,
"cds_start": 1664,
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"cds_length": 1950,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1565C>T",
"hgvs_p": "p.Thr522Met",
"transcript": "XM_047439601.1",
"protein_id": "XP_047295557.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 616,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Thr513Met",
"transcript": "XM_005259366.6",
"protein_id": "XP_005259423.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 607,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1535C>T",
"hgvs_p": "p.Thr512Met",
"transcript": "XM_047439602.1",
"protein_id": "XP_047295558.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 606,
"cds_start": 1535,
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"cds_length": 1821,
"cdna_start": 1588,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Thr475Met",
"transcript": "XM_047439603.1",
"protein_id": "XP_047295559.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 569,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Met",
"transcript": "XM_005259367.5",
"protein_id": "XP_005259424.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 549,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1250C>T",
"hgvs_p": "p.Thr417Met",
"transcript": "XM_047439605.1",
"protein_id": "XP_047295561.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 511,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
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}
],
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"computational_score_selected": 0.10023358464241028,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.807,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000339313.10",
"gene_symbol": "SIGLEC10",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Thr603Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}