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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: 12-104866454-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=104866454&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 104866454,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032148.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001352171.3",
"protein_id": "NP_001339100.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258538.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352171.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000258538.8",
"protein_id": "ENSP00000258538.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352171.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258538.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001352169.2",
"protein_id": "NP_001339098.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001352169.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001352170.3",
"protein_id": "NP_001339099.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001352170.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001352172.3",
"protein_id": "NP_001339101.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001352172.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387125.1",
"protein_id": "NP_001374054.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001387125.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387126.1",
"protein_id": "NP_001374055.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001387126.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387127.1",
"protein_id": "NP_001374056.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_001387127.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_032148.6",
"protein_id": "NP_115524.3",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "NM_032148.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906846.1",
"protein_id": "ENSP00000576905.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906846.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906847.1",
"protein_id": "ENSP00000576906.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906847.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906848.1",
"protein_id": "ENSP00000576907.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906848.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906849.1",
"protein_id": "ENSP00000576908.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906849.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906850.1",
"protein_id": "ENSP00000576909.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906850.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906851.1",
"protein_id": "ENSP00000576910.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906851.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906852.1",
"protein_id": "ENSP00000576911.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906852.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000906853.1",
"protein_id": "ENSP00000576912.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000906853.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "ENST00000963050.1",
"protein_id": "ENSP00000633109.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 573,
"cds_start": 1153,
"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": "ENST00000963050.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387128.1",
"protein_id": "NP_001374057.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387128.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387129.1",
"protein_id": "NP_001374058.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387129.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387130.1",
"protein_id": "NP_001374059.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 527,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387130.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Leu",
"transcript": "NM_001387131.1",
"protein_id": "NP_001374060.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
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}