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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: 6-53269156-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53269156&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53269156,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242828.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "NM_021814.5",
"protein_id": "NP_068586.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304434.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021814.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000304434.11",
"protein_id": "ENSP00000306640.6",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021814.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304434.11"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Cys249Phe",
"transcript": "ENST00000542638.5",
"protein_id": "ENSP00000440728.2",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 262,
"cds_start": 746,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542638.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Val318Leu",
"transcript": "NM_001242828.2",
"protein_id": "NP_001229757.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 326,
"cds_start": 952,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242828.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000370918.8",
"protein_id": "ENSP00000359956.5",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 326,
"cds_start": 952,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370918.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Val300Leu",
"transcript": "ENST00000954546.1",
"protein_id": "ENSP00000624605.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 308,
"cds_start": 898,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954546.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "NM_001301856.2",
"protein_id": "NP_001288785.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301856.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893711.1",
"protein_id": "ENSP00000563770.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893711.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893717.1",
"protein_id": "ENSP00000563776.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893717.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893718.1",
"protein_id": "ENSP00000563777.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893718.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893719.1",
"protein_id": "ENSP00000563778.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893719.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893720.1",
"protein_id": "ENSP00000563779.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893720.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893721.1",
"protein_id": "ENSP00000563780.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893721.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000893722.1",
"protein_id": "ENSP00000563781.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893722.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000926657.1",
"protein_id": "ENSP00000596716.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926657.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000954545.1",
"protein_id": "ENSP00000624604.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954545.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.871G>T",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000954548.1",
"protein_id": "ENSP00000624607.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 299,
"cds_start": 871,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954548.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Val289Leu",
"transcript": "ENST00000893713.1",
"protein_id": "ENSP00000563772.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 297,
"cds_start": 865,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893713.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.859G>T",
"hgvs_p": "p.Val287Leu",
"transcript": "ENST00000893716.1",
"protein_id": "ENSP00000563775.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 295,
"cds_start": 859,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893716.1"
},
{
"aa_ref": "V",
"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": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Val265Leu",
"transcript": "ENST00000893714.1",
"protein_id": "ENSP00000563773.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 273,
"cds_start": 793,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893714.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Val265Leu",
"transcript": "ENST00000926656.1",
"protein_id": "ENSP00000596715.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 273,
"cds_start": 793,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926656.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELOVL5",
"gene_hgnc_id": 21308,
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Val263Leu",
"transcript": "ENST00000926655.1",
"protein_id": "ENSP00000596714.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 271,
"cds_start": 787,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
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}
],
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}