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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: 1-51361211-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51361211&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51361211,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410797.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Asn835Ser",
"transcript": "NM_001981.3",
"protein_id": "NP_001972.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 896,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371733.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001981.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Asn835Ser",
"transcript": "ENST00000371733.8",
"protein_id": "ENSP00000360798.3",
"transcript_support_level": 1,
"aa_start": 835,
"aa_end": null,
"aa_length": 896,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001981.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371733.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "ENST00000371730.6",
"protein_id": "ENSP00000360795.2",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 762,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371730.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.Asn872Ser",
"transcript": "NM_001410797.1",
"protein_id": "NP_001397726.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 933,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410797.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.Asn872Ser",
"transcript": "ENST00000706292.1",
"protein_id": "ENSP00000516336.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 933,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706292.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.Asn872Ser",
"transcript": "ENST00000926816.1",
"protein_id": "ENSP00000596875.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 933,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926816.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2528A>G",
"hgvs_p": "p.Asn843Ser",
"transcript": "ENST00000889375.1",
"protein_id": "ENSP00000559434.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 904,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889375.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2516A>G",
"hgvs_p": "p.Asn839Ser",
"transcript": "ENST00000926819.1",
"protein_id": "ENSP00000596878.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 900,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926819.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Asn835Ser",
"transcript": "ENST00000889376.1",
"protein_id": "ENSP00000559435.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 896,
"cds_start": 2504,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889376.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2501A>G",
"hgvs_p": "p.Asn834Ser",
"transcript": "ENST00000956029.1",
"protein_id": "ENSP00000626088.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 895,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956029.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Asn833Ser",
"transcript": "ENST00000956027.1",
"protein_id": "ENSP00000626086.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 894,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956027.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2432A>G",
"hgvs_p": "p.Asn811Ser",
"transcript": "ENST00000889387.1",
"protein_id": "ENSP00000559446.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 872,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889387.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "NM_001410796.1",
"protein_id": "NP_001397725.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 866,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410796.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "ENST00000706288.1",
"protein_id": "ENSP00000516334.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 866,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706288.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2411A>G",
"hgvs_p": "p.Asn804Ser",
"transcript": "ENST00000889378.1",
"protein_id": "ENSP00000559437.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 865,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889378.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2408A>G",
"hgvs_p": "p.Asn803Ser",
"transcript": "ENST00000889381.1",
"protein_id": "ENSP00000559440.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 864,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889381.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2390A>G",
"hgvs_p": "p.Asn797Ser",
"transcript": "ENST00000889388.1",
"protein_id": "ENSP00000559447.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 858,
"cds_start": 2390,
"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": "ENST00000889388.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2378A>G",
"hgvs_p": "p.Asn793Ser",
"transcript": "ENST00000889384.1",
"protein_id": "ENSP00000559443.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 854,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889384.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2378A>G",
"hgvs_p": "p.Asn793Ser",
"transcript": "ENST00000956028.1",
"protein_id": "ENSP00000626087.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 854,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956028.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2306A>G",
"hgvs_p": "p.Asn769Ser",
"transcript": "ENST00000889382.1",
"protein_id": "ENSP00000559441.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 830,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889382.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Asn767Ser",
"transcript": "ENST00000889379.1",
"protein_id": "ENSP00000559438.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 828,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889379.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Asn767Ser",
"transcript": "ENST00000956031.1",
"protein_id": "ENSP00000626090.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 828,
"cds_start": 2300,
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"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": "ENST00000706291.1"
}
],
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"dbsnp": "rs552579354",
"frequency_reference_population": 0.000021064474,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000191552,
"gnomad_genomes_af": 0.000039383,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016766518354415894,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.0592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.306,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001410797.1",
"gene_symbol": "EPS15",
"hgnc_id": 3419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2615A>G",
"hgvs_p": "p.Asn872Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}