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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: 16-89738710-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89738710&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89738710,
"ref": "T",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_000135.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "NM_001113525.2",
"protein_id": "NP_001106997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": null,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443381.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113525.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "ENST00000443381.7",
"protein_id": "ENSP00000415836.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": null,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113525.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443381.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "ENST00000289816.9",
"protein_id": "ENSP00000289816.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289816.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4261-2A>G",
"hgvs_p": null,
"transcript": "NM_000135.4",
"protein_id": "NP_000126.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": null,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389301.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000135.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4261-2A>G",
"hgvs_p": null,
"transcript": "ENST00000389301.8",
"protein_id": "ENSP00000373952.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": null,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000135.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389301.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.*44A>G",
"hgvs_p": null,
"transcript": "ENST00000564475.6",
"protein_id": "ENSP00000454977.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": null,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564475.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.*44A>G",
"hgvs_p": null,
"transcript": "ENST00000696287.1",
"protein_id": "ENSP00000512524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1420,
"cds_start": null,
"cds_end": null,
"cds_length": 4263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696287.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "ENST00000950694.1",
"protein_id": "ENSP00000620753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": null,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950694.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "ENST00000906560.1",
"protein_id": "ENSP00000576619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "NM_152287.4",
"protein_id": "NP_689500.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152287.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "XM_005256324.4",
"protein_id": "XP_005256381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256324.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "c.*464T>C",
"hgvs_p": null,
"transcript": "XM_047434901.1",
"protein_id": "XP_047290857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4265-2A>G",
"hgvs_p": null,
"transcript": "NM_001286167.3",
"protein_id": "NP_001273096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286167.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4265-2A>G",
"hgvs_p": null,
"transcript": "ENST00000568369.6",
"protein_id": "ENSP00000456829.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568369.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4147-2A>G",
"hgvs_p": null,
"transcript": "ENST00000916500.1",
"protein_id": "ENSP00000586559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.4132-2A>G",
"hgvs_p": null,
"transcript": "ENST00000950570.1",
"protein_id": "ENSP00000620629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1412,
"cds_start": null,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.635-2A>G",
"hgvs_p": null,
"transcript": "ENST00000567879.5",
"protein_id": "ENSP00000457006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567879.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "c.481-2A>G",
"hgvs_p": null,
"transcript": "ENST00000561722.5",
"protein_id": "ENSP00000456608.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*3005A>G",
"hgvs_p": null,
"transcript": "ENST00000561667.2",
"protein_id": "ENSP00000512522.1",
"transcript_support_level": 4,
"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": "ENST00000561667.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF276",
"gene_hgnc_id": 23330,
"hgvs_c": "n.2297T>C",
"hgvs_p": null,
"transcript": "ENST00000563983.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000563983.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.4393A>G",
"hgvs_p": null,
"transcript": "ENST00000696274.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000696274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCA",
"gene_hgnc_id": 3582,
"hgvs_c": "n.*3671A>G",
"hgvs_p": null,
"transcript": "ENST00000696275.1",
"protein_id": "ENSP00000512517.1",
"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",
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group A",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}