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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: 2-218401602-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218401602&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218401602,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001400269.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_021198.3",
"protein_id": "NP_067021.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 261,
"cds_start": 106,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273062.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021198.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "ENST00000273062.7",
"protein_id": "ENSP00000273062.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 261,
"cds_start": 106,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273062.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000428361.6",
"protein_id": "ENSP00000518517.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428361.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000443891.6",
"protein_id": "ENSP00000392248.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443891.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000464255.2",
"protein_id": "ENSP00000518520.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464255.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000473420.6",
"protein_id": "ENSP00000518508.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473420.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000488627.6",
"protein_id": "ENSP00000518519.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488627.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000491064.6",
"protein_id": "ENSP00000518507.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491064.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-318C>T",
"hgvs_p": null,
"transcript": "ENST00000498160.6",
"protein_id": "ENSP00000518509.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498160.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000710828.1",
"protein_id": "ENSP00000518506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.-315C>T",
"hgvs_p": null,
"transcript": "ENST00000710839.1",
"protein_id": "ENSP00000518518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710839.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "ENST00000885505.1",
"protein_id": "ENSP00000555564.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 277,
"cds_start": 106,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885505.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001400269.1",
"protein_id": "NP_001387198.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 276,
"cds_start": 106,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400269.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001400270.1",
"protein_id": "NP_001387199.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 275,
"cds_start": 106,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400270.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001400271.1",
"protein_id": "NP_001387200.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 269,
"cds_start": 106,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400271.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "ENST00000452977.6",
"protein_id": "ENSP00000404301.2",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 268,
"cds_start": 106,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452977.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001400272.1",
"protein_id": "NP_001387201.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 261,
"cds_start": 106,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400272.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "ENST00000885504.1",
"protein_id": "ENSP00000555563.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 261,
"cds_start": 106,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885504.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001206878.2",
"protein_id": "NP_001193807.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 260,
"cds_start": 106,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206878.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_001400268.1",
"protein_id": "NP_001387197.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 260,
"cds_start": 106,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400268.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "NM_182642.3",
"protein_id": "NP_872580.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 260,
"cds_start": 106,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182642.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDSP1",
"gene_hgnc_id": 21614,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Arg36Trp",
"transcript": "ENST00000710837.1",
"protein_id": "ENSP00000518515.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 260,
"cds_start": 106,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001400269.1",
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"effects": [
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"inheritance_mode": "",
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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
}