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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: 17-61716037-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61716037&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61716037,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000259008.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "NM_032043.3",
"protein_id": "NP_114432.2",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000259008.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "ENST00000259008.7",
"protein_id": "ENSP00000259008.2",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_032043.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "ENST00000682453.1",
"protein_id": "ENSP00000506943.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "ENST00000683039.1",
"protein_id": "ENSP00000508303.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2184C>G",
"hgvs_p": "p.Asp728Glu",
"transcript": "ENST00000682755.1",
"protein_id": "ENSP00000507660.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2184,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "ENST00000577598.5",
"protein_id": "ENSP00000464654.1",
"transcript_support_level": 5,
"aa_start": 802,
"aa_end": null,
"aa_length": 994,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.1899C>G",
"hgvs_p": "p.Asp633Glu",
"transcript": "ENST00000684584.1",
"protein_id": "ENSP00000508044.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 970,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "ENST00000682989.1",
"protein_id": "ENSP00000507786.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 870,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2466C>G",
"hgvs_p": "p.Asp822Glu",
"transcript": "XM_011525332.4",
"protein_id": "XP_011523634.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 8242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2466C>G",
"hgvs_p": "p.Asp822Glu",
"transcript": "XM_011525333.4",
"protein_id": "XP_011523635.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2466C>G",
"hgvs_p": "p.Asp822Glu",
"transcript": "XM_011525334.3",
"protein_id": "XP_011523636.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1269,
"cds_start": 2466,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "XM_011525335.4",
"protein_id": "XP_011523637.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "XM_047436891.1",
"protein_id": "XP_047292847.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "XM_047436892.1",
"protein_id": "XP_047292848.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2406,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 9556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Asp782Glu",
"transcript": "XM_011525336.3",
"protein_id": "XP_011523638.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Asp782Glu",
"transcript": "XM_047436893.1",
"protein_id": "XP_047292849.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 8118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2346C>G",
"hgvs_p": "p.Asp782Glu",
"transcript": "XM_047436894.1",
"protein_id": "XP_047292850.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2346,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3995,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2466C>G",
"hgvs_p": "p.Asp822Glu",
"transcript": "XM_011525340.4",
"protein_id": "XP_011523642.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 853,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "XM_047436900.1",
"protein_id": "XP_047292856.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 833,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2406C>G",
"hgvs_p": "p.Asp802Glu",
"transcript": "XM_047436901.1",
"protein_id": "XP_047292857.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 833,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2677,
"cdna_end": null,
"cdna_length": 3093,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*934C>G",
"hgvs_p": null,
"transcript": "ENST00000682066.1",
"protein_id": "ENSP00000507191.1",
"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": 3640,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1146C>G",
"hgvs_p": null,
"transcript": "ENST00000682073.1",
"protein_id": null,
"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": 4306,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
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}