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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: 19-17755170-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17755170&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17755170,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001161357.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "NM_015122.3",
"protein_id": "NP_055937.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000596536.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015122.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000596536.6",
"protein_id": "ENSP00000470731.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015122.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596536.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699212.1",
"protein_id": "ENSP00000514208.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 930,
"cds_start": 6,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699212.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000594202.6",
"protein_id": "ENSP00000473001.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 891,
"cds_start": 6,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594202.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000596309.6",
"protein_id": "ENSP00000470511.2",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596309.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000596951.6",
"protein_id": "ENSP00000472417.1",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596951.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000600209.6",
"protein_id": "ENSP00000469075.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600209.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000600676.5",
"protein_id": "ENSP00000470493.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600676.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699176.1",
"protein_id": "ENSP00000514179.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699176.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699177.1",
"protein_id": "ENSP00000514180.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699177.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699207.1",
"protein_id": "ENSP00000514204.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699207.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699209.1",
"protein_id": "ENSP00000514206.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699209.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699215.1",
"protein_id": "ENSP00000514211.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 889,
"cds_start": 6,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699215.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699202.1",
"protein_id": "ENSP00000514200.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 876,
"cds_start": 6,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699202.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699214.1",
"protein_id": "ENSP00000514210.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 876,
"cds_start": 6,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699214.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699208.1",
"protein_id": "ENSP00000514205.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 858,
"cds_start": 6,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699208.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699198.1",
"protein_id": "ENSP00000514196.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 850,
"cds_start": 6,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699198.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699199.1",
"protein_id": "ENSP00000514197.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 850,
"cds_start": 6,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699199.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699213.1",
"protein_id": "ENSP00000514209.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 850,
"cds_start": 6,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699213.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699197.1",
"protein_id": "ENSP00000514195.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 797,
"cds_start": 6,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699197.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699200.1",
"protein_id": "ENSP00000514198.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 797,
"cds_start": 6,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699200.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHO1",
"gene_hgnc_id": 29002,
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Ser2Ser",
"transcript": "ENST00000699196.1",
"protein_id": "ENSP00000514194.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 778,
"cds_start": 6,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
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],
"gene_symbol": "FCHO1",
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.55,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001161357.2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}