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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: 17-3930377-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3930377&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3930377,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_174953.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_005173.4",
"protein_id": "NP_005164.2",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 999,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397041.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005173.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000397041.8",
"protein_id": "ENSP00000380234.3",
"transcript_support_level": 1,
"aa_start": 890,
"aa_end": null,
"aa_length": 999,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005173.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397041.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000397043.7",
"protein_id": "ENSP00000380236.3",
"transcript_support_level": 1,
"aa_start": 890,
"aa_end": null,
"aa_length": 998,
"cds_start": 2668,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397043.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174953.3",
"protein_id": "NP_777613.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2668,
"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": "NM_174953.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000359983.7",
"protein_id": "ENSP00000353072.3",
"transcript_support_level": 5,
"aa_start": 890,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2668,
"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": "ENST00000359983.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174954.3",
"protein_id": "NP_777614.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174954.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174955.3",
"protein_id": "NP_777615.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174955.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000352011.7",
"protein_id": "ENSP00000301387.6",
"transcript_support_level": 5,
"aa_start": 890,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352011.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2788G>A",
"hgvs_p": "p.Val930Met",
"transcript": "ENST00000905322.1",
"protein_id": "ENSP00000575381.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905322.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2788G>A",
"hgvs_p": "p.Val930Met",
"transcript": "ENST00000905321.1",
"protein_id": "ENSP00000575380.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2788,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905321.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174956.3",
"protein_id": "NP_777616.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174956.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174958.3",
"protein_id": "NP_777618.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174958.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000309890.11",
"protein_id": "ENSP00000312577.7",
"transcript_support_level": 5,
"aa_start": 890,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309890.11"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000397035.8",
"protein_id": "ENSP00000380229.3",
"transcript_support_level": 5,
"aa_start": 890,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397035.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2740G>A",
"hgvs_p": "p.Val914Met",
"transcript": "ENST00000905324.1",
"protein_id": "ENSP00000575383.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2740,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905324.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "NM_174957.3",
"protein_id": "NP_777617.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 998,
"cds_start": 2668,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174957.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2659G>A",
"hgvs_p": "p.Val887Met",
"transcript": "ENST00000905320.1",
"protein_id": "ENSP00000575379.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 996,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905320.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "ENST00000916223.1",
"protein_id": "ENSP00000586282.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 995,
"cds_start": 2668,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916223.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2632G>A",
"hgvs_p": "p.Val878Met",
"transcript": "ENST00000905325.1",
"protein_id": "ENSP00000575384.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 987,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905325.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2542G>A",
"hgvs_p": "p.Val848Met",
"transcript": "ENST00000905323.1",
"protein_id": "ENSP00000575382.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 957,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905323.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "XM_011523881.3",
"protein_id": "XP_011522183.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523881.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2A3",
"gene_hgnc_id": 813,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Val890Met",
"transcript": "XM_011523882.3",
"protein_id": "XP_011522184.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2668,
"cds_end": null,
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}