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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: 22-50523639-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50523639&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50523639,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005138.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "NM_005138.3",
"protein_id": "NP_005129.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395693.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005138.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000395693.8",
"protein_id": "ENSP00000379046.4",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005138.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395693.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*264A>G",
"hgvs_p": null,
"transcript": "NM_152299.4",
"protein_id": "NP_689512.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420993.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152299.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*264A>G",
"hgvs_p": null,
"transcript": "ENST00000420993.7",
"protein_id": "ENSP00000410088.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152299.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420993.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "NM_001169109.2",
"protein_id": "NP_001162580.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001169109.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "NM_001169110.1",
"protein_id": "NP_001162581.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001169110.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "NM_001169111.2",
"protein_id": "NP_001162582.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001169111.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000252785.3",
"protein_id": "ENSP00000252785.3",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252785.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000535425.5",
"protein_id": "ENSP00000444242.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535425.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000543927.6",
"protein_id": "ENSP00000444433.1",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543927.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862162.1",
"protein_id": "ENSP00000532221.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862162.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862163.1",
"protein_id": "ENSP00000532222.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862163.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862164.1",
"protein_id": "ENSP00000532223.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862164.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862165.1",
"protein_id": "ENSP00000532224.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862165.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862166.1",
"protein_id": "ENSP00000532225.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862166.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862167.1",
"protein_id": "ENSP00000532226.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862167.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862168.1",
"protein_id": "ENSP00000532227.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862168.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000862169.1",
"protein_id": "ENSP00000532228.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862169.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCO2",
"gene_hgnc_id": 10604,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Met258Thr",
"transcript": "ENST00000928020.1",
"protein_id": "ENSP00000598079.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 266,
"cds_start": 773,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*264A>G",
"hgvs_p": null,
"transcript": "NM_001185011.2",
"protein_id": "NP_001171940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185011.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*264A>G",
"hgvs_p": null,
"transcript": "XM_005261912.5",
"protein_id": "XP_005261969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.*264A>G",
"hgvs_p": null,
"transcript": "XM_017028793.3",
"protein_id": "XP_016884282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028793.3"
},
{
"aa_ref": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}