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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: 19-40441872-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40441872&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40441872,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013368.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "NM_203344.3",
"protein_id": "NP_976219.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322354.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203344.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000322354.4",
"protein_id": "ENSP00000325414.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203344.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322354.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000392028.9",
"protein_id": "ENSP00000375882.3",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392028.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "NM_013368.4",
"protein_id": "NP_037500.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013368.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865349.1",
"protein_id": "ENSP00000535408.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865349.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865350.1",
"protein_id": "ENSP00000535409.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865350.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865351.1",
"protein_id": "ENSP00000535410.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865351.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865352.1",
"protein_id": "ENSP00000535411.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865352.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865353.1",
"protein_id": "ENSP00000535412.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865353.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865354.1",
"protein_id": "ENSP00000535413.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865354.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865355.1",
"protein_id": "ENSP00000535414.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865355.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865356.1",
"protein_id": "ENSP00000535415.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865356.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000865357.1",
"protein_id": "ENSP00000535416.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865357.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921116.1",
"protein_id": "ENSP00000591175.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921116.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921117.1",
"protein_id": "ENSP00000591176.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921117.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921118.1",
"protein_id": "ENSP00000591177.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921118.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921119.1",
"protein_id": "ENSP00000591178.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921119.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921120.1",
"protein_id": "ENSP00000591179.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921120.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921121.1",
"protein_id": "ENSP00000591180.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921121.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921122.1",
"protein_id": "ENSP00000591181.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921122.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921123.1",
"protein_id": "ENSP00000591182.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921123.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERTAD3",
"gene_hgnc_id": 17931,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000921124.1",
"protein_id": "ENSP00000591183.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 196,
"cds_start": 209,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
"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
}