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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: 10-59653878-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59653878&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59653878,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_194298.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "NM_194298.3",
"protein_id": "NP_919274.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395348.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194298.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000395348.8",
"protein_id": "ENSP00000378757.3",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_194298.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395348.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000881710.1",
"protein_id": "ENSP00000551769.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 551,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881710.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000881715.1",
"protein_id": "ENSP00000551774.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 551,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881715.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "NM_001323981.2",
"protein_id": "NP_001310910.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323981.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000395347.1",
"protein_id": "ENSP00000378756.1",
"transcript_support_level": 2,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395347.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000881708.1",
"protein_id": "ENSP00000551767.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881708.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000881719.1",
"protein_id": "ENSP00000551778.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881719.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000936199.1",
"protein_id": "ENSP00000606258.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936199.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "ENST00000947928.1",
"protein_id": "ENSP00000617987.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 509,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947928.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Gly326Asp",
"transcript": "ENST00000881718.1",
"protein_id": "ENSP00000551777.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 494,
"cds_start": 977,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881718.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Gly326Asp",
"transcript": "ENST00000947927.1",
"protein_id": "ENSP00000617986.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 494,
"cds_start": 977,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947927.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1052G>A",
"hgvs_p": "p.Gly351Asp",
"transcript": "ENST00000881713.1",
"protein_id": "ENSP00000551772.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 477,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881713.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Gly335Asp",
"transcript": "ENST00000881714.1",
"protein_id": "ENSP00000551773.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 461,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881714.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Asp",
"transcript": "NM_001323977.1",
"protein_id": "NP_001310906.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 422,
"cds_start": 887,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323977.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Asp",
"transcript": "NM_001323978.2",
"protein_id": "NP_001310907.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 422,
"cds_start": 887,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323978.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Asp",
"transcript": "NM_001323979.2",
"protein_id": "NP_001310908.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 422,
"cds_start": 887,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323979.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Gly296Asp",
"transcript": "NM_001323980.2",
"protein_id": "NP_001310909.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 422,
"cds_start": 887,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323980.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Gly278Asp",
"transcript": "ENST00000947929.1",
"protein_id": "ENSP00000617988.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 404,
"cds_start": 833,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947929.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "XM_017015883.2",
"protein_id": "XP_016871372.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 551,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015883.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "XM_047424753.1",
"protein_id": "XP_047280709.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 551,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424753.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A9",
"gene_hgnc_id": 23520,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Gly383Asp",
"transcript": "XM_047424754.1",
"protein_id": "XP_047280710.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 551,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}