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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: 20-4177528-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=4177528&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 4177528,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270691.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "NM_175839.3",
"protein_id": "NP_787033.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305958.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175839.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000305958.9",
"protein_id": "ENSP00000307252.4",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175839.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305958.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000621355.4",
"protein_id": "ENSP00000478305.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 585,
"cds_start": 386,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621355.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000278795.7",
"protein_id": "ENSP00000278795.3",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 532,
"cds_start": 386,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278795.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000339123.10",
"protein_id": "ENSP00000344595.6",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 502,
"cds_start": 386,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339123.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000346595.6",
"protein_id": "ENSP00000341775.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 190,
"cds_start": 386,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346595.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "NM_001270691.2",
"protein_id": "NP_001257620.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 585,
"cds_start": 386,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270691.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000379460.6",
"protein_id": "ENSP00000368773.2",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379460.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908987.1",
"protein_id": "ENSP00000579046.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908987.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908990.1",
"protein_id": "ENSP00000579049.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908990.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908991.1",
"protein_id": "ENSP00000579050.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908991.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908992.1",
"protein_id": "ENSP00000579051.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908992.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908993.1",
"protein_id": "ENSP00000579052.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908993.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908994.1",
"protein_id": "ENSP00000579053.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908994.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908995.1",
"protein_id": "ENSP00000579054.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908995.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908996.1",
"protein_id": "ENSP00000579055.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908996.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908997.1",
"protein_id": "ENSP00000579056.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908997.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000908998.1",
"protein_id": "ENSP00000579057.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908998.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000929649.1",
"protein_id": "ENSP00000599708.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929649.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000929650.1",
"protein_id": "ENSP00000599709.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929650.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000957318.1",
"protein_id": "ENSP00000627377.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957318.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SMOX",
"gene_hgnc_id": 15862,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000957320.1",
"protein_id": "ENSP00000627379.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 555,
"cds_start": 386,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957320.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}