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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: 2-46905517-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46905517&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46905517,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000319466.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "NM_139279.6",
"protein_id": "NP_644808.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": "ENST00000319466.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000319466.9",
"protein_id": "ENSP00000317271.4",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": "NM_139279.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "ENST00000409913.5",
"protein_id": "ENSP00000386941.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 94,
"cds_start": 231,
"cds_end": null,
"cds_length": 285,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "NM_001171506.2",
"protein_id": "NP_001164977.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "NM_001171507.2",
"protein_id": "NP_001164978.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "NM_001171508.2",
"protein_id": "NP_001164979.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000409105.5",
"protein_id": "ENSP00000386651.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000409207.5",
"protein_id": "ENSP00000386386.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000409218.5",
"protein_id": "ENSP00000386261.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000409973.5",
"protein_id": "ENSP00000386279.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 146,
"cds_start": 387,
"cds_end": null,
"cds_length": 441,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp",
"transcript": "ENST00000412438.5",
"protein_id": "ENSP00000402717.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 145,
"cds_start": 387,
"cds_end": null,
"cds_length": 438,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "NM_001171511.3",
"protein_id": "NP_001164982.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 127,
"cds_start": 330,
"cds_end": null,
"cds_length": 384,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Asp110Asp",
"transcript": "ENST00000444761.6",
"protein_id": "ENSP00000394647.2",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 127,
"cds_start": 330,
"cds_end": null,
"cds_length": 384,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "NM_001171509.3",
"protein_id": "NP_001164980.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 94,
"cds_start": 231,
"cds_end": null,
"cds_length": 285,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "NM_001171510.3",
"protein_id": "NP_001164981.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 94,
"cds_start": 231,
"cds_end": null,
"cds_length": 285,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "ENST00000409147.1",
"protein_id": "ENSP00000387082.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 94,
"cds_start": 231,
"cds_end": null,
"cds_length": 285,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "ENST00000409800.5",
"protein_id": "ENSP00000387202.1",
"transcript_support_level": 4,
"aa_start": 77,
"aa_end": null,
"aa_length": 94,
"cds_start": 231,
"cds_end": null,
"cds_length": 285,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "n.280C>T",
"hgvs_p": null,
"transcript": "ENST00000470873.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "n.145C>T",
"hgvs_p": null,
"transcript": "ENST00000493804.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.*53C>T",
"hgvs_p": null,
"transcript": "ENST00000649435.1",
"protein_id": "ENSP00000498024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228925",
"gene_hgnc_id": 58223,
"hgvs_c": "n.80-1367G>A",
"hgvs_p": null,
"transcript": "ENST00000429761.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01118",
"gene_hgnc_id": 49261,
"hgvs_c": "n.718-7659G>A",
"hgvs_p": null,
"transcript": "ENST00000759083.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCFD2-AS1",
"gene_hgnc_id": 58223,
"hgvs_c": "n.41-1367G>A",
"hgvs_p": null,
"transcript": "NR_199007.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
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"feature": null
}
],
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"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.627,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000319466.9",
"gene_symbol": "MCFD2",
"hgnc_id": 18451,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Asp129Asp"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429761.2",
"gene_symbol": "ENSG00000228925",
"hgnc_id": 58223,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.80-1367G>A",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_199007.1",
"gene_symbol": "MCFD2-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.41-1367G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000759083.1",
"gene_symbol": "LINC01118",
"hgnc_id": 49261,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.718-7659G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}