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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: 3-35687757-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=35687757&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 35687757,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001385595.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385562.1",
"protein_id": "NP_001372491.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684406.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385562.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000684406.1",
"protein_id": "ENSP00000506922.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385562.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684406.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000187397.8",
"protein_id": "ENSP00000187397.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 812,
"cds_start": 280,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000187397.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000444190.5",
"protein_id": "ENSP00000405276.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 793,
"cds_start": 280,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444190.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385595.1",
"protein_id": "NP_001372524.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 848,
"cds_start": 280,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385595.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385490.1",
"protein_id": "NP_001372419.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385490.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385592.1",
"protein_id": "NP_001372521.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385592.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385593.1",
"protein_id": "NP_001372522.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385593.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385594.1",
"protein_id": "NP_001372523.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385594.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946214.1",
"protein_id": "ENSP00000616273.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946214.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946216.1",
"protein_id": "ENSP00000616275.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 847,
"cds_start": 280,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946216.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385495.1",
"protein_id": "NP_001372424.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 846,
"cds_start": 280,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385495.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385591.1",
"protein_id": "NP_001372520.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 846,
"cds_start": 280,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385591.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385558.1",
"protein_id": "NP_001372487.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385558.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385567.1",
"protein_id": "NP_001372496.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385567.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385589.1",
"protein_id": "NP_001372518.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385589.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "NM_001385590.1",
"protein_id": "NP_001372519.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385590.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946208.1",
"protein_id": "ENSP00000616267.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946208.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946213.1",
"protein_id": "ENSP00000616272.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946213.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946224.1",
"protein_id": "ENSP00000616283.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946224.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946225.1",
"protein_id": "ENSP00000616284.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 827,
"cds_start": 280,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946225.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPP21",
"gene_hgnc_id": 16968,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Leu94Ile",
"transcript": "ENST00000946209.1",
"protein_id": "ENSP00000616268.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 814,
"cds_start": 280,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.692,
"phylop100way_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001385595.1",
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"effects": [
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"inheritance_mode": "AD",
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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
}