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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: 15-75356339-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75356339&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75356339,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256494.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2848G>T",
"hgvs_p": "p.Val950Leu",
"transcript": "NM_006715.4",
"protein_id": "NP_006706.2",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267978.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006715.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2848G>T",
"hgvs_p": "p.Val950Leu",
"transcript": "ENST00000267978.10",
"protein_id": "ENSP00000267978.4",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006715.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267978.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2899G>T",
"hgvs_p": "p.Val967Leu",
"transcript": "ENST00000565683.5",
"protein_id": "ENSP00000457788.1",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565683.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2779G>T",
"hgvs_p": "p.Val927Leu",
"transcript": "ENST00000569482.5",
"protein_id": "ENSP00000455998.1",
"transcript_support_level": 1,
"aa_start": 927,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569482.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2551G>T",
"hgvs_p": "p.Val851Leu",
"transcript": "ENST00000563622.5",
"protein_id": "ENSP00000454589.1",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 941,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*1305C>A",
"hgvs_p": null,
"transcript": "NM_024608.4",
"protein_id": "NP_078884.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355059.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024608.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*1305C>A",
"hgvs_p": null,
"transcript": "ENST00000355059.9",
"protein_id": "ENSP00000347170.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024608.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355059.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2950G>T",
"hgvs_p": "p.Val984Leu",
"transcript": "ENST00000854693.1",
"protein_id": "ENSP00000524752.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2950,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854693.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2926G>T",
"hgvs_p": "p.Val976Leu",
"transcript": "ENST00000854682.1",
"protein_id": "ENSP00000524741.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854682.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2923G>T",
"hgvs_p": "p.Val975Leu",
"transcript": "ENST00000964304.1",
"protein_id": "ENSP00000634363.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964304.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2911G>T",
"hgvs_p": "p.Val971Leu",
"transcript": "ENST00000964320.1",
"protein_id": "ENSP00000634379.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964320.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2905G>T",
"hgvs_p": "p.Val969Leu",
"transcript": "ENST00000854686.1",
"protein_id": "ENSP00000524745.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1059,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854686.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2902G>T",
"hgvs_p": "p.Val968Leu",
"transcript": "ENST00000854698.1",
"protein_id": "ENSP00000524757.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854698.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2899G>T",
"hgvs_p": "p.Val967Leu",
"transcript": "NM_001256494.2",
"protein_id": "NP_001243423.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256494.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2890G>T",
"hgvs_p": "p.Val964Leu",
"transcript": "ENST00000964318.1",
"protein_id": "ENSP00000634377.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964318.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2887G>T",
"hgvs_p": "p.Val963Leu",
"transcript": "ENST00000854704.1",
"protein_id": "ENSP00000524763.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2887,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854704.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000854683.1",
"protein_id": "ENSP00000524742.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854683.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000854697.1",
"protein_id": "ENSP00000524756.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2884,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854697.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2878G>T",
"hgvs_p": "p.Val960Leu",
"transcript": "ENST00000854695.1",
"protein_id": "ENSP00000524754.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2878,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854695.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2878G>T",
"hgvs_p": "p.Val960Leu",
"transcript": "ENST00000854702.1",
"protein_id": "ENSP00000524761.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2878,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854702.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2872G>T",
"hgvs_p": "p.Val958Leu",
"transcript": "ENST00000854684.1",
"protein_id": "ENSP00000524743.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2872,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854684.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2C1",
"gene_hgnc_id": 6827,
"hgvs_c": "c.2863G>T",
"hgvs_p": "p.Val955Leu",
"transcript": "ENST00000854700.1",
"protein_id": "ENSP00000524759.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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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": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
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{
"score": 0,
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"PM2",
"BP4_Moderate"
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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
}