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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: 19-51414859-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51414859&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51414859,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033130.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.His527Leu",
"transcript": "NM_033130.5",
"protein_id": "NP_149121.2",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 697,
"cds_start": 1580,
"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": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.His527Leu",
"transcript": "ENST00000339313.10",
"protein_id": "ENSP00000345243.4",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 697,
"cds_start": 1580,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1406A>T",
"hgvs_p": "p.His469Leu",
"transcript": "ENST00000439889.6",
"protein_id": "ENSP00000389132.2",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 639,
"cds_start": 1406,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1330+322A>T",
"hgvs_p": null,
"transcript": "ENST00000353836.9",
"protein_id": "ENSP00000342389.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1156+322A>T",
"hgvs_p": null,
"transcript": "ENST00000441969.7",
"protein_id": "ENSP00000408387.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": null,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1436A>T",
"hgvs_p": "p.His479Leu",
"transcript": "ENST00000961808.1",
"protein_id": "ENSP00000631867.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 649,
"cds_start": 1436,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1406A>T",
"hgvs_p": "p.His469Leu",
"transcript": "NM_001171156.2",
"protein_id": "NP_001164627.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 639,
"cds_start": 1406,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.His437Leu",
"transcript": "ENST00000961807.1",
"protein_id": "ENSP00000631866.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 607,
"cds_start": 1310,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1481A>T",
"hgvs_p": "p.His494Leu",
"transcript": "XM_047439600.1",
"protein_id": "XP_047295556.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 664,
"cds_start": 1481,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1436A>T",
"hgvs_p": "p.His479Leu",
"transcript": "XM_047439604.1",
"protein_id": "XP_047295560.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 649,
"cds_start": 1436,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1337A>T",
"hgvs_p": "p.His446Leu",
"transcript": "XM_047439601.1",
"protein_id": "XP_047295557.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 616,
"cds_start": 1337,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1310A>T",
"hgvs_p": "p.His437Leu",
"transcript": "XM_005259366.6",
"protein_id": "XP_005259423.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 607,
"cds_start": 1310,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1307A>T",
"hgvs_p": "p.His436Leu",
"transcript": "XM_047439602.1",
"protein_id": "XP_047295558.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 606,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439602.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1136A>T",
"hgvs_p": "p.His379Leu",
"transcript": "XM_005259367.5",
"protein_id": "XP_005259424.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 549,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259367.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1330+322A>T",
"hgvs_p": null,
"transcript": "NM_001171157.2",
"protein_id": "NP_001164628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171157.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1186+322A>T",
"hgvs_p": null,
"transcript": "NM_001171158.2",
"protein_id": "NP_001164629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": null,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171158.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1186+322A>T",
"hgvs_p": null,
"transcript": "ENST00000436984.6",
"protein_id": "ENSP00000414324.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1156+322A>T",
"hgvs_p": null,
"transcript": "NM_001171159.2",
"protein_id": "NP_001164630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": null,
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"cds_length": 1635,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171159.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1060+322A>T",
"hgvs_p": null,
"transcript": "NM_001322105.2",
"protein_id": "NP_001309034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322105.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1060+322A>T",
"hgvs_p": null,
"transcript": "ENST00000525998.5",
"protein_id": "ENSP00000431444.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525998.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.916+322A>T",
"hgvs_p": null,
"transcript": "ENST00000961809.1",
"protein_id": "ENSP00000631868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.886+322A>T",
"hgvs_p": null,
"transcript": "NM_001171161.2",
"protein_id": "NP_001164632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"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"
},
{
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{
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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{
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"verdict": "Uncertain_significance",
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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
}