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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: 5-81987611-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=81987611&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 81987611,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031482.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "NM_031482.5",
"protein_id": "NP_113670.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282185.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031482.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000282185.8",
"protein_id": "ENSP00000282185.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031482.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282185.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000458350.7",
"protein_id": "ENSP00000404938.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458350.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000513443.5",
"protein_id": "ENSP00000425182.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 125,
"cds_start": 41,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513443.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "NM_001131028.2",
"protein_id": "NP_001124500.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131028.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866604.1",
"protein_id": "ENSP00000536663.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866604.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866605.1",
"protein_id": "ENSP00000536664.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866605.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866609.1",
"protein_id": "ENSP00000536668.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866609.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866610.1",
"protein_id": "ENSP00000536669.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866610.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866611.1",
"protein_id": "ENSP00000536670.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866611.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866613.1",
"protein_id": "ENSP00000536672.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866613.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000919272.1",
"protein_id": "ENSP00000589331.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919272.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000919274.1",
"protein_id": "ENSP00000589333.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919274.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000919276.1",
"protein_id": "ENSP00000589335.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919276.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000919277.1",
"protein_id": "ENSP00000589336.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919277.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000969578.1",
"protein_id": "ENSP00000639637.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969578.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000969579.1",
"protein_id": "ENSP00000639638.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 220,
"cds_start": 41,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969579.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000969580.1",
"protein_id": "ENSP00000639639.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 202,
"cds_start": 41,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969580.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000513634.1",
"protein_id": "ENSP00000425225.1",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 184,
"cds_start": 41,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513634.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866607.1",
"protein_id": "ENSP00000536666.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 184,
"cds_start": 41,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866607.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866608.1",
"protein_id": "ENSP00000536667.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 184,
"cds_start": 41,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866608.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Arg14Leu",
"transcript": "ENST00000866612.1",
"protein_id": "ENSP00000536671.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 184,
"cds_start": 41,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866612.1"
},
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"phenotype_combined": "not specified",
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}
],
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}