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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: 19-10148915-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10148915&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10148915,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130823.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Lys897Glu",
"transcript": "NM_001130823.3",
"protein_id": "NP_001124295.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1632,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359526.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130823.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Lys897Glu",
"transcript": "ENST00000359526.9",
"protein_id": "ENSP00000352516.3",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1632,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130823.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359526.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000340748.8",
"protein_id": "ENSP00000345739.3",
"transcript_support_level": 1,
"aa_start": 881,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340748.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*2379A>G",
"hgvs_p": null,
"transcript": "ENST00000592705.5",
"protein_id": "ENSP00000466657.1",
"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": "ENST00000592705.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*2379A>G",
"hgvs_p": null,
"transcript": "ENST00000592705.5",
"protein_id": "ENSP00000466657.1",
"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": "ENST00000592705.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000678804.1",
"protein_id": "ENSP00000503853.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1658,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678804.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000677946.1",
"protein_id": "ENSP00000504202.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1655,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677946.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Lys897Glu",
"transcript": "ENST00000917926.1",
"protein_id": "ENSP00000587985.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1635,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917926.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2695A>G",
"hgvs_p": "p.Lys899Glu",
"transcript": "ENST00000917927.1",
"protein_id": "ENSP00000587986.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1634,
"cds_start": 2695,
"cds_end": null,
"cds_length": 4905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917927.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "NM_001318730.2",
"protein_id": "NP_001305659.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1619,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318730.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "NM_001379.4",
"protein_id": "NP_001370.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000676610.1",
"protein_id": "ENSP00000504236.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1613,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676610.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Lys897Glu",
"transcript": "ENST00000917928.1",
"protein_id": "ENSP00000587987.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1608,
"cds_start": 2689,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917928.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2593A>G",
"hgvs_p": "p.Lys865Glu",
"transcript": "ENST00000917929.1",
"protein_id": "ENSP00000587988.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1603,
"cds_start": 2593,
"cds_end": null,
"cds_length": 4812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917929.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000679313.1",
"protein_id": "ENSP00000504512.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1580,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679313.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2641A>G",
"hgvs_p": "p.Lys881Glu",
"transcript": "ENST00000679103.1",
"protein_id": "ENSP00000503151.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1577,
"cds_start": 2641,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679103.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "c.2326A>G",
"hgvs_p": "p.Lys776Glu",
"transcript": "NM_001318731.2",
"protein_id": "NP_001305660.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1511,
"cds_start": 2326,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318731.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.724A>G",
"hgvs_p": null,
"transcript": "ENST00000586667.2",
"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": "ENST00000586667.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.2301A>G",
"hgvs_p": null,
"transcript": "ENST00000676604.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000676604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.2697A>G",
"hgvs_p": null,
"transcript": "ENST00000676820.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000676820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.3325A>G",
"hgvs_p": null,
"transcript": "ENST00000676868.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000676868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT1",
"gene_hgnc_id": 2976,
"hgvs_c": "n.*2331A>G",
"hgvs_p": null,
"transcript": "ENST00000677013.1",
"protein_id": "ENSP00000503135.1",
"transcript_support_level": null,
"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,
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"biotype": "nonsense_mediated_decay",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -8,
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{
"score": -8,
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"verdict": "Benign",
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],
"clinvar_disease": "Hereditary sensory neuropathy-deafness-dementia syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Hereditary sensory neuropathy-deafness-dementia syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}