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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: 3-10073359-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10073359&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10073359,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_033084.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "NM_001018115.3",
"protein_id": "NP_001018125.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675286.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018115.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000675286.1",
"protein_id": "ENSP00000502379.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018115.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675286.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000287647.7",
"protein_id": "ENSP00000287647.3",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1471,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287647.7"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000419585.5",
"protein_id": "ENSP00000398754.1",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419585.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "n.1209C>T",
"hgvs_p": null,
"transcript": "ENST00000421731.5",
"protein_id": "ENSP00000389936.1",
"transcript_support_level": 1,
"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": "ENST00000421731.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2784C>T",
"hgvs_p": "p.Asn928Asn",
"transcript": "ENST00000915105.1",
"protein_id": "ENSP00000585164.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2784,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915105.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "NM_033084.6",
"protein_id": "NP_149075.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1471,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033084.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "NM_001374254.1",
"protein_id": "NP_001361183.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1458,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374254.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "NM_001319984.2",
"protein_id": "NP_001306913.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319984.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915101.1",
"protein_id": "ENSP00000585160.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915101.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2709C>T",
"hgvs_p": "p.Asn903Asn",
"transcript": "ENST00000915096.1",
"protein_id": "ENSP00000585155.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1450,
"cds_start": 2709,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915096.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2703C>T",
"hgvs_p": "p.Asn901Asn",
"transcript": "ENST00000915113.1",
"protein_id": "ENSP00000585172.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1448,
"cds_start": 2703,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915113.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2676C>T",
"hgvs_p": "p.Asn892Asn",
"transcript": "ENST00000915095.1",
"protein_id": "ENSP00000585154.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1439,
"cds_start": 2676,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915095.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915104.1",
"protein_id": "ENSP00000585163.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915104.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915106.1",
"protein_id": "ENSP00000585165.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1438,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915106.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915108.1",
"protein_id": "ENSP00000585167.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1431,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915108.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2628C>T",
"hgvs_p": "p.Asn876Asn",
"transcript": "ENST00000915110.1",
"protein_id": "ENSP00000585169.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2628,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915110.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2601C>T",
"hgvs_p": "p.Asn867Asn",
"transcript": "NM_001374253.1",
"protein_id": "NP_001361182.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1414,
"cds_start": 2601,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374253.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2601C>T",
"hgvs_p": "p.Asn867Asn",
"transcript": "ENST00000915109.1",
"protein_id": "ENSP00000585168.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1414,
"cds_start": 2601,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915109.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2601C>T",
"hgvs_p": "p.Asn867Asn",
"transcript": "ENST00000676013.1",
"protein_id": "ENSP00000501999.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1413,
"cds_start": 2601,
"cds_end": null,
"cds_length": 4244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676013.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915115.1",
"protein_id": "ENSP00000585174.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1413,
"cds_start": 2712,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915115.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.2712C>T",
"hgvs_p": "p.Asn904Asn",
"transcript": "ENST00000915114.1",
"protein_id": "ENSP00000585173.1",
"transcript_support_level": null,
"aa_start": 904,
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"bayesdelnoaf_prediction": "Benign",
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{
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "Fanconi anemia|not specified|Fanconi anemia complementation group D2|not provided|Hereditary breast ovarian cancer syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}