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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: 17-78993858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78993858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78993858,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138793.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "NM_001159773.2",
"protein_id": "NP_001153245.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392446.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159773.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000392446.10",
"protein_id": "ENSP00000376241.4",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001159773.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392446.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000591773.5",
"protein_id": "ENSP00000467437.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591773.5"
},
{
"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": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"transcript": "ENST00000588096.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000588096.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "NM_001159772.2",
"protein_id": "NP_001153244.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159772.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "NM_138793.4",
"protein_id": "NP_620148.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138793.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000302345.6",
"protein_id": "ENSP00000307674.2",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302345.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000620915.4",
"protein_id": "ENSP00000477798.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620915.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907684.1",
"protein_id": "ENSP00000577743.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907684.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907685.1",
"protein_id": "ENSP00000577744.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907685.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907686.1",
"protein_id": "ENSP00000577745.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907686.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907687.1",
"protein_id": "ENSP00000577746.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907687.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907688.1",
"protein_id": "ENSP00000577747.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907688.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907689.1",
"protein_id": "ENSP00000577748.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907689.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907690.1",
"protein_id": "ENSP00000577749.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907690.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907691.1",
"protein_id": "ENSP00000577750.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907691.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907692.1",
"protein_id": "ENSP00000577751.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907692.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907693.1",
"protein_id": "ENSP00000577752.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907693.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907694.1",
"protein_id": "ENSP00000577753.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907694.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907695.1",
"protein_id": "ENSP00000577754.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907695.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907696.1",
"protein_id": "ENSP00000577755.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907696.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CANT1",
"gene_hgnc_id": 19721,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Cys",
"transcript": "ENST00000907697.1",
"protein_id": "ENSP00000577756.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 401,
"cds_start": 898,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907697.1"
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"dbsnp": "rs267606701",
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"computational_score_selected": 0.9944688677787781,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.941,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9156,
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"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.574,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
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"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_138793.4",
"gene_symbol": "CANT1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.898C>T",
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],
"clinvar_disease": "Desbuquois dysplasia 1,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Desbuquois dysplasia 1|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}