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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: 14-68874878-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=68874878&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 68874878,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000394419.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2726A>G",
"hgvs_p": "p.Tyr909Cys",
"transcript": "NM_001130004.2",
"protein_id": "NP_001123476.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 914,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000394419.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2726A>G",
"hgvs_p": "p.Tyr909Cys",
"transcript": "ENST00000394419.9",
"protein_id": "ENSP00000377941.4",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 914,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_001130004.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2774A>G",
"hgvs_p": "p.Tyr925Cys",
"transcript": "ENST00000538545.6",
"protein_id": "ENSP00000439828.2",
"transcript_support_level": 1,
"aa_start": 925,
"aa_end": null,
"aa_length": 930,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2660A>G",
"hgvs_p": "p.Tyr887Cys",
"transcript": "ENST00000193403.11",
"protein_id": "ENSP00000193403.6",
"transcript_support_level": 1,
"aa_start": 887,
"aa_end": null,
"aa_length": 892,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 3044,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2645A>G",
"hgvs_p": "p.Tyr882Cys",
"transcript": "ENST00000438964.6",
"protein_id": "ENSP00000414272.2",
"transcript_support_level": 1,
"aa_start": 882,
"aa_end": null,
"aa_length": 887,
"cds_start": 2645,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.4114A>G",
"hgvs_p": null,
"transcript": "ENST00000556083.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2789A>G",
"hgvs_p": "p.Tyr930Cys",
"transcript": "NM_001424012.1",
"protein_id": "NP_001410941.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 935,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2786A>G",
"hgvs_p": "p.Tyr929Cys",
"transcript": "NM_001424013.1",
"protein_id": "NP_001410942.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 934,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2774A>G",
"hgvs_p": "p.Tyr925Cys",
"transcript": "NM_001424014.1",
"protein_id": "NP_001410943.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 930,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2750A>G",
"hgvs_p": "p.Tyr917Cys",
"transcript": "ENST00000683198.1",
"protein_id": "ENSP00000507889.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 922,
"cds_start": 2750,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.Tyr916Cys",
"transcript": "NM_001424015.1",
"protein_id": "NP_001410944.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 921,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2723A>G",
"hgvs_p": "p.Tyr908Cys",
"transcript": "ENST00000682291.1",
"protein_id": "ENSP00000507093.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 913,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2684A>G",
"hgvs_p": "p.Tyr895Cys",
"transcript": "NM_001424016.1",
"protein_id": "NP_001410945.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 900,
"cds_start": 2684,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2669A>G",
"hgvs_p": "p.Tyr890Cys",
"transcript": "NM_001411035.1",
"protein_id": "NP_001397964.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 895,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2669A>G",
"hgvs_p": "p.Tyr890Cys",
"transcript": "ENST00000679147.1",
"protein_id": "ENSP00000504355.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 895,
"cds_start": 2669,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2660A>G",
"hgvs_p": "p.Tyr887Cys",
"transcript": "NM_001102.4",
"protein_id": "NP_001093.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 892,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2906,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Tyr886Cys",
"transcript": "NM_001424017.1",
"protein_id": "NP_001410946.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 891,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2645A>G",
"hgvs_p": "p.Tyr882Cys",
"transcript": "NM_001130005.2",
"protein_id": "NP_001123477.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 887,
"cds_start": 2645,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2642A>G",
"hgvs_p": "p.Tyr881Cys",
"transcript": "ENST00000684598.1",
"protein_id": "ENSP00000507785.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 886,
"cds_start": 2642,
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"cds_length": 2661,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2633A>G",
"hgvs_p": "p.Tyr878Cys",
"transcript": "ENST00000684713.1",
"protein_id": "ENSP00000507155.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 883,
"cds_start": 2633,
"cds_end": null,
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"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2621A>G",
"hgvs_p": "p.Tyr874Cys",
"transcript": "NM_001424018.1",
"protein_id": "NP_001410947.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 879,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Tyr869Cys",
"transcript": "NM_001424019.1",
"protein_id": "NP_001410948.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 874,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2852,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"gene_symbol": "ACTN1",
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"frequency_reference_population": 6.914893e-7,
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"allele_count_reference_population": 1,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394419.9",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}