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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: 7-2225526-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2225526&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2225526,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003550.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_001013836.2",
"protein_id": "NP_001013858.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265854.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013836.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000265854.12",
"protein_id": "ENSP00000265854.7",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013836.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265854.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000406869.5",
"protein_id": "ENSP00000385334.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286192",
"gene_hgnc_id": null,
"hgvs_c": "n.*2583C>T",
"hgvs_p": null,
"transcript": "ENST00000651235.1",
"protein_id": "ENSP00000498895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286192",
"gene_hgnc_id": null,
"hgvs_c": "n.*2583C>T",
"hgvs_p": null,
"transcript": "ENST00000651235.1",
"protein_id": "ENSP00000498895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651235.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000853805.1",
"protein_id": "ENSP00000523864.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 741,
"cds_start": 244,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853805.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853807.1",
"protein_id": "ENSP00000523866.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 735,
"cds_start": 175,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853807.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_001013837.2",
"protein_id": "NP_001013859.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013837.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_001304523.2",
"protein_id": "NP_001291452.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304523.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_003550.3",
"protein_id": "NP_003541.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003550.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000399654.6",
"protein_id": "ENSP00000382562.2",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399654.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853791.1",
"protein_id": "ENSP00000523850.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853791.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853792.1",
"protein_id": "ENSP00000523851.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853792.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853796.1",
"protein_id": "ENSP00000523855.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853796.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853798.1",
"protein_id": "ENSP00000523857.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853798.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853799.1",
"protein_id": "ENSP00000523858.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853799.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853800.1",
"protein_id": "ENSP00000523859.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853800.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853803.1",
"protein_id": "ENSP00000523862.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853803.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000967144.1",
"protein_id": "ENSP00000637203.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967144.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000967148.1",
"protein_id": "ENSP00000637207.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967148.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000967149.1",
"protein_id": "ENSP00000637208.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 718,
"cds_start": 175,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967149.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAD1L1",
"gene_hgnc_id": 6762,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000853793.1",
"protein_id": "ENSP00000523852.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 699,
"cds_start": 175,
"cds_end": null,
"cds_length": 2100,
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{
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],
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Prostate cancer, somatic|Prostate cancer|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}