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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: 1-212807751-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212807751&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 212807751,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001146171.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "NM_001042552.3",
"protein_id": "NP_001036017.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 274,
"cds_start": 503,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366974.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042552.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000366974.9",
"protein_id": "ENSP00000355941.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 274,
"cds_start": 503,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042552.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366974.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000366973.8",
"protein_id": "ENSP00000355940.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 273,
"cds_start": 503,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366973.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000531963.5",
"protein_id": "ENSP00000433755.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 240,
"cds_start": 503,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531963.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.560T>C",
"hgvs_p": "p.Leu187Pro",
"transcript": "ENST00000950486.1",
"protein_id": "ENSP00000620545.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 292,
"cds_start": 560,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950486.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Leu174Pro",
"transcript": "ENST00000933547.1",
"protein_id": "ENSP00000603606.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 287,
"cds_start": 521,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933547.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "NM_001146171.2",
"protein_id": "NP_001139643.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 281,
"cds_start": 503,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146171.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000532324.5",
"protein_id": "ENSP00000431376.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 281,
"cds_start": 503,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532324.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "NM_001042553.3",
"protein_id": "NP_001036018.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 273,
"cds_start": 503,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042553.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000883558.1",
"protein_id": "ENSP00000553617.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 272,
"cds_start": 503,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883558.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.470T>C",
"hgvs_p": "p.Leu157Pro",
"transcript": "ENST00000933544.1",
"protein_id": "ENSP00000603603.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 262,
"cds_start": 470,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933544.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "ENST00000950484.1",
"protein_id": "ENSP00000620543.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 260,
"cds_start": 440,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950484.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000933546.1",
"protein_id": "ENSP00000603605.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 255,
"cds_start": 503,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933546.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "NM_001146170.2",
"protein_id": "NP_001139642.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 253,
"cds_start": 440,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146170.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "ENST00000526641.5",
"protein_id": "ENSP00000434801.1",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 253,
"cds_start": 440,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526641.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "ENST00000883560.1",
"protein_id": "ENSP00000553619.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 252,
"cds_start": 440,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883560.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "ENST00000883559.1",
"protein_id": "ENSP00000553618.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 247,
"cds_start": 503,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883559.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "NM_001146169.2",
"protein_id": "NP_001139641.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 240,
"cds_start": 503,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146169.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "XM_017000328.3",
"protein_id": "XP_016855817.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 260,
"cds_start": 440,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000328.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"transcript": "XM_017000329.2",
"protein_id": "XP_016855818.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 252,
"cds_start": 440,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000329.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Leu168Pro",
"transcript": "XM_017000330.3",
"protein_id": "XP_016855819.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 247,
"cds_start": 503,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000330.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.347T>C",
"hgvs_p": "p.Leu116Pro",
"transcript": "XM_024453283.2",
"protein_id": "XP_024309051.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 221,
"cds_start": 347,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"pathogenic_score": 6,
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],
"verdict": "Likely_pathogenic",
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"gene_symbol": "TATDN3",
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"effects": [
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],
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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
}