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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: 12-120979061-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120979061&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120979061,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001306179.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "NM_000545.8",
"protein_id": "NP_000536.6",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 631,
"cds_start": 293,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257555.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000545.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000257555.11",
"protein_id": "ENSP00000257555.5",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 631,
"cds_start": 293,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000545.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257555.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000544413.2",
"protein_id": "ENSP00000438804.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 638,
"cds_start": 293,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544413.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.293C>T",
"hgvs_p": null,
"transcript": "ENST00000538646.5",
"protein_id": "ENSP00000443964.1",
"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": "ENST00000538646.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.293C>T",
"hgvs_p": null,
"transcript": "ENST00000540108.1",
"protein_id": "ENSP00000445445.1",
"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": "ENST00000540108.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.293C>T",
"hgvs_p": null,
"transcript": "ENST00000541924.5",
"protein_id": "ENSP00000440361.1",
"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": "ENST00000541924.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.293C>T",
"hgvs_p": null,
"transcript": "ENST00000560968.6",
"protein_id": "ENSP00000453965.2",
"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": "ENST00000560968.6"
},
{
"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": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.42+369C>T",
"hgvs_p": null,
"transcript": "ENST00000535955.5",
"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": "pseudogene",
"feature": "ENST00000535955.5"
},
{
"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": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.190+221C>T",
"hgvs_p": null,
"transcript": "ENST00000538626.2",
"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": "pseudogene",
"feature": "ENST00000538626.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.72+221C>T",
"hgvs_p": null,
"transcript": "ENST00000544574.5",
"protein_id": "ENSP00000438565.1",
"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": "ENST00000544574.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000541395.5",
"protein_id": "ENSP00000443112.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 662,
"cds_start": 293,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541395.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "NM_001306179.2",
"protein_id": "NP_001293108.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 638,
"cds_start": 293,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306179.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "NM_001406915.1",
"protein_id": "NP_001393844.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 567,
"cds_start": 293,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406915.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000886299.1",
"protein_id": "ENSP00000556358.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 558,
"cds_start": 293,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886299.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000400024.6",
"protein_id": "ENSP00000476181.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 542,
"cds_start": 293,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400024.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "ENST00000886300.1",
"protein_id": "ENSP00000556359.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 502,
"cds_start": 293,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886300.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val",
"transcript": "XM_024449168.2",
"protein_id": "XP_024304936.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 662,
"cds_start": 293,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449168.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.428C>T",
"hgvs_p": null,
"transcript": "ENST00000402929.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000402929.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.153+553G>A",
"hgvs_p": null,
"transcript": "ENST00000433033.4",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000433033.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.322+1583G>A",
"hgvs_p": null,
"transcript": "ENST00000535301.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000535301.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.291+1583G>A",
"hgvs_p": null,
"transcript": "ENST00000537361.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000537361.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.295+1583G>A",
"hgvs_p": null,
"transcript": "ENST00000619441.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000619441.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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],
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"dbsnp": "rs1800574",
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"hom_count_reference_population": 921,
"allele_count_reference_population": 47080,
"gnomad_exomes_af": 0.0299781,
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"gnomad_exomes_ac": 43743,
"gnomad_genomes_ac": 3337,
"gnomad_exomes_homalt": 869,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.004244208335876465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.346,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001306179.2",
"gene_symbol": "HNF1A",
"hgnc_id": 11621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ala98Val"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000433033.4",
"gene_symbol": "HNF1A-AS1",
"hgnc_id": 26785,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.153+553G>A",
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}
],
"clinvar_disease": "Maturity onset diabetes mellitus in young,Maturity-onset diabetes of the young type 3,Monogenic diabetes,Nonpapillary renal cell carcinoma,Ovarian cancer,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:13 O:1",
"phenotype_combined": "not specified|Maturity-onset diabetes of the young type 3|Monogenic diabetes|Maturity onset diabetes mellitus in young|not provided|Ovarian cancer|Nonpapillary renal cell carcinoma",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}