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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: 15-27986643-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27986643&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 27986643,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000275.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "NM_000275.3",
"protein_id": "NP_000266.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 838,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "ENST00000354638.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "ENST00000354638.8",
"protein_id": "ENSP00000346659.3",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 838,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": "NM_000275.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1111A>C",
"hgvs_p": "p.Met371Leu",
"transcript": "ENST00000353809.9",
"protein_id": "ENSP00000261276.8",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 814,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1111A>C",
"hgvs_p": "p.Met371Leu",
"transcript": "NM_001300984.2",
"protein_id": "NP_001287913.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 814,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Met403Leu",
"transcript": "XM_017022255.2",
"protein_id": "XP_016877744.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 860,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "XM_011521640.3",
"protein_id": "XP_011519942.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 852,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Met403Leu",
"transcript": "XM_017022256.2",
"protein_id": "XP_016877745.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 846,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1135A>C",
"hgvs_p": "p.Met379Leu",
"transcript": "XM_017022257.2",
"protein_id": "XP_016877746.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 836,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Met403Leu",
"transcript": "XM_017022258.2",
"protein_id": "XP_016877747.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 835,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 3504,
"cdna_end": null,
"cdna_length": 5074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1111A>C",
"hgvs_p": "p.Met371Leu",
"transcript": "XM_047432605.1",
"protein_id": "XP_047288561.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 828,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "XM_047432606.1",
"protein_id": "XP_047288562.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 827,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1135A>C",
"hgvs_p": "p.Met379Leu",
"transcript": "XM_017022259.2",
"protein_id": "XP_016877748.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 822,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 3428,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1069A>C",
"hgvs_p": "p.Met357Leu",
"transcript": "XM_017022260.2",
"protein_id": "XP_016877749.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 814,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1135A>C",
"hgvs_p": "p.Met379Leu",
"transcript": "XM_047432607.1",
"protein_id": "XP_047288563.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 811,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1045A>C",
"hgvs_p": "p.Met349Leu",
"transcript": "XM_047432608.1",
"protein_id": "XP_047288564.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 806,
"cds_start": 1045,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1158,
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"cdna_length": 3047,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1111A>C",
"hgvs_p": "p.Met371Leu",
"transcript": "XM_047432609.1",
"protein_id": "XP_047288565.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 803,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1069A>C",
"hgvs_p": "p.Met357Leu",
"transcript": "XM_047432610.1",
"protein_id": "XP_047288566.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 800,
"cds_start": 1069,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1012A>C",
"hgvs_p": "p.Met338Leu",
"transcript": "XM_017022261.2",
"protein_id": "XP_016877750.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 795,
"cds_start": 1012,
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"cds_length": 2388,
"cdna_start": 1789,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Met403Leu",
"transcript": "XM_017022262.2",
"protein_id": "XP_016877751.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 793,
"cds_start": 1207,
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"cdna_start": 3505,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1045A>C",
"hgvs_p": "p.Met349Leu",
"transcript": "XM_047432611.1",
"protein_id": "XP_047288567.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
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"cds_start": 1045,
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"cdna_start": 1158,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Met403Leu",
"transcript": "XM_017022263.2",
"protein_id": "XP_016877752.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 791,
"cds_start": 1207,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 5184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OCA2",
"gene_hgnc_id": 8101,
"hgvs_c": "c.1183A>C",
"hgvs_p": "p.Met395Leu",
"transcript": "XM_047432612.1",
"protein_id": "XP_047288568.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 785,
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{
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"clinvar_disease": " BLUE/NONBLUE EYES,SKIN/HAIR/EYE PIGMENTATION 1,Tyrosinase-positive oculocutaneous albinism,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:3 US:3",
"phenotype_combined": "not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
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}