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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: 9-127402608-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127402608&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127402608,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014580.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "NM_014580.5",
"protein_id": "NP_055395.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 477,
"cds_start": 578,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373371.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014580.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000373371.8",
"protein_id": "ENSP00000362469.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 477,
"cds_start": 578,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014580.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373371.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000373360.7",
"protein_id": "ENSP00000362458.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 578,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373360.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000954537.1",
"protein_id": "ENSP00000624596.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 451,
"cds_start": 578,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954537.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000954538.1",
"protein_id": "ENSP00000624597.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 450,
"cds_start": 578,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954538.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000954540.1",
"protein_id": "ENSP00000624599.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 419,
"cds_start": 578,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954540.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "NM_001271711.2",
"protein_id": "NP_001258640.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 411,
"cds_start": 578,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271711.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ser148Phe",
"transcript": "ENST00000954541.1",
"protein_id": "ENSP00000624600.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 406,
"cds_start": 443,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954541.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ser148Phe",
"transcript": "ENST00000954542.1",
"protein_id": "ENSP00000624601.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 405,
"cds_start": 443,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954542.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Ser30Phe",
"transcript": "NM_001271712.2",
"protein_id": "NP_001258641.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 314,
"cds_start": 89,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271712.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Ser30Phe",
"transcript": "ENST00000610552.4",
"protein_id": "ENSP00000477568.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 314,
"cds_start": 89,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610552.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.95C>T",
"hgvs_p": "p.Ser32Phe",
"transcript": "ENST00000430147.1",
"protein_id": "ENSP00000391213.1",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 276,
"cds_start": 95,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430147.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Phe",
"transcript": "ENST00000423934.5",
"protein_id": "ENSP00000389070.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 266,
"cds_start": 173,
"cds_end": null,
"cds_length": 802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423934.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.89C>T",
"hgvs_p": "p.Ser30Phe",
"transcript": "ENST00000451404.5",
"protein_id": "ENSP00000392434.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 264,
"cds_start": 89,
"cds_end": null,
"cds_length": 797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451404.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ser124Phe",
"transcript": "ENST00000419917.5",
"protein_id": "ENSP00000411726.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 255,
"cds_start": 371,
"cds_end": null,
"cds_length": 769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419917.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Phe",
"transcript": "ENST00000439597.5",
"protein_id": "ENSP00000404893.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 240,
"cds_start": 173,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439597.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ser102Phe",
"transcript": "ENST00000419132.5",
"protein_id": "ENSP00000413973.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 167,
"cds_start": 305,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419132.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ser315Phe",
"transcript": "XM_047423283.1",
"protein_id": "XP_047279239.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 599,
"cds_start": 944,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423283.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ser315Phe",
"transcript": "XM_047423285.1",
"protein_id": "XP_047279241.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 573,
"cds_start": 944,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423285.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ser315Phe",
"transcript": "XM_047423286.1",
"protein_id": "XP_047279242.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 559,
"cds_start": 944,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423286.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ser315Phe",
"transcript": "XM_047423287.1",
"protein_id": "XP_047279243.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 533,
"cds_start": 944,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423287.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A8",
"gene_hgnc_id": 13812,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "XM_011518602.3",
"protein_id": "XP_011516904.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 451,
"cds_start": 578,
"cds_end": null,
"cds_length": 1356,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}