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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: 22-35323853-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35323853&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35323853,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135732.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "NM_005488.3",
"protein_id": "NP_005479.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 492,
"cds_start": 587,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": "ENST00000449058.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005488.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000449058.7",
"protein_id": "ENSP00000394466.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 492,
"cds_start": 587,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": "NM_005488.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449058.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000411850.5",
"protein_id": "ENSP00000413697.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 493,
"cds_start": 587,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411850.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953252.1",
"protein_id": "ENSP00000623311.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 568,
"cds_start": 587,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953252.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883951.1",
"protein_id": "ENSP00000554010.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 555,
"cds_start": 587,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883951.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883941.1",
"protein_id": "ENSP00000554000.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 554,
"cds_start": 587,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883941.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883949.1",
"protein_id": "ENSP00000554008.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 537,
"cds_start": 587,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883949.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953249.1",
"protein_id": "ENSP00000623308.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 537,
"cds_start": 587,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953249.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953248.1",
"protein_id": "ENSP00000623307.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 536,
"cds_start": 587,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953248.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883950.1",
"protein_id": "ENSP00000554009.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 524,
"cds_start": 587,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883950.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883947.1",
"protein_id": "ENSP00000554006.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 523,
"cds_start": 587,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883947.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883945.1",
"protein_id": "ENSP00000554004.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 521,
"cds_start": 587,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883945.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883943.1",
"protein_id": "ENSP00000554002.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 520,
"cds_start": 587,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883943.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883944.1",
"protein_id": "ENSP00000554003.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 520,
"cds_start": 587,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883944.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883946.1",
"protein_id": "ENSP00000554005.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 519,
"cds_start": 587,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883946.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883942.1",
"protein_id": "ENSP00000554001.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 514,
"cds_start": 587,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883942.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953251.1",
"protein_id": "ENSP00000623310.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 512,
"cds_start": 587,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953251.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883952.1",
"protein_id": "ENSP00000554011.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 511,
"cds_start": 587,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883952.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000883940.1",
"protein_id": "ENSP00000553999.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 510,
"cds_start": 587,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883940.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953250.1",
"protein_id": "ENSP00000623309.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 510,
"cds_start": 587,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953250.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000953247.1",
"protein_id": "ENSP00000623306.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 495,
"cds_start": 587,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953247.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "NM_001135732.2",
"protein_id": "NP_001129204.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 493,
"cds_start": 587,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
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{
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{
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{
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{
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{
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],
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],
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"frequency_reference_population": 0.0000020554955,
"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09351614117622375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.0662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135732.2",
"gene_symbol": "TOM1",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val"
}
],
"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
}