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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: 1-236885202-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236885202&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236885202,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366577.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.His920Tyr",
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000366577.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2758C>T",
"hgvs_p": "p.His920Tyr",
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 1265,
"cds_start": 2758,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_000254.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2605C>T",
"hgvs_p": "p.His869Tyr",
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.His474Tyr",
"transcript": "ENST00000366576.3",
"protein_id": "ENSP00000355535.3",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 819,
"cds_start": 1420,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 5234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2605C>T",
"hgvs_p": "p.His869Tyr",
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 10405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2578C>T",
"hgvs_p": "p.His860Tyr",
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1205,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2569C>T",
"hgvs_p": "p.His857Tyr",
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2569,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2569C>T",
"hgvs_p": "p.His857Tyr",
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2569,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.His804Tyr",
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2410,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.His774Tyr",
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2320,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.His513Tyr",
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 858,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2926C>T",
"hgvs_p": "p.His976Tyr",
"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2773C>T",
"hgvs_p": "p.His925Tyr",
"transcript": "XM_017001329.3",
"protein_id": "XP_016856818.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 2813,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2755C>T",
"hgvs_p": "p.His919Tyr",
"transcript": "XM_005273141.6",
"protein_id": "XP_005273198.1",
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"aa_start": 919,
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"cds_start": 2755,
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"cdna_start": 3178,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2737C>T",
"hgvs_p": "p.His913Tyr",
"transcript": "XM_017001330.3",
"protein_id": "XP_016856819.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 10154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2602C>T",
"hgvs_p": "p.His868Tyr",
"transcript": "XM_047421182.1",
"protein_id": "XP_047277138.1",
"transcript_support_level": null,
"aa_start": 868,
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"cdna_start": 3025,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2584C>T",
"hgvs_p": "p.His862Tyr",
"transcript": "XM_047421183.1",
"protein_id": "XP_047277139.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2584,
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"cds_length": 3624,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2566C>T",
"hgvs_p": "p.His856Tyr",
"transcript": "XM_047421185.1",
"protein_id": "XP_047277141.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1201,
"cds_start": 2566,
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"cdna_start": 2989,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.2416C>T",
"hgvs_p": "p.His806Tyr",
"transcript": "XM_047421186.1",
"protein_id": "XP_047277142.1",
"transcript_support_level": null,
"aa_start": 806,
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"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1822C>T",
"hgvs_p": "p.His608Tyr",
"transcript": "XM_047421187.1",
"protein_id": "XP_047277143.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 953,
"cds_start": 1822,
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"cdna_start": 1911,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*1800C>T",
"hgvs_p": null,
"transcript": "ENST00000650888.1",
"protein_id": "ENSP00000498393.1",
"transcript_support_level": null,
"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": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*1502C>T",
"hgvs_p": null,
"transcript": "ENST00000651455.1",
"protein_id": "ENSP00000498963.1",
"transcript_support_level": null,
"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": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
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"hgvs_c": "n.3072C>T",
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],
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.223,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM5"
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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
}