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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: 16-89630426-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89630426&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89630426,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004413.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_001389466.1",
"protein_id": "NP_001376395.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690203.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389466.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000690203.1",
"protein_id": "ENSP00000508584.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001389466.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690203.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000261615.5",
"protein_id": "ENSP00000261615.4",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261615.5"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000393092.7",
"protein_id": "ENSP00000376807.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393092.7"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_001128141.3",
"protein_id": "NP_001121613.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128141.3"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_001389467.1",
"protein_id": "NP_001376396.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389467.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_001389468.1",
"protein_id": "NP_001376397.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389468.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_001389469.1",
"protein_id": "NP_001376398.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389469.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "NM_004413.4",
"protein_id": "NP_004404.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004413.4"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000421184.5",
"protein_id": "ENSP00000397313.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421184.5"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000876490.1",
"protein_id": "ENSP00000546549.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876490.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000876491.1",
"protein_id": "ENSP00000546550.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876491.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000876492.1",
"protein_id": "ENSP00000546551.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876492.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000876493.1",
"protein_id": "ENSP00000546552.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876493.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936229.1",
"protein_id": "ENSP00000606288.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936229.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936233.1",
"protein_id": "ENSP00000606292.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936233.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936234.1",
"protein_id": "ENSP00000606293.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 411,
"cds_start": 16,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936234.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936230.1",
"protein_id": "ENSP00000606289.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 409,
"cds_start": 16,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936230.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000946841.1",
"protein_id": "ENSP00000616900.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 409,
"cds_start": 16,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946841.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936228.1",
"protein_id": "ENSP00000606287.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 400,
"cds_start": 16,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936228.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936232.1",
"protein_id": "ENSP00000606291.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 400,
"cds_start": 16,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936232.1"
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP1",
"gene_hgnc_id": 3002,
"hgvs_c": "c.16T>G",
"hgvs_p": "p.Trp6Gly",
"transcript": "ENST00000936231.1",
"protein_id": "ENSP00000606290.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 399,
"cds_start": 16,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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],
"gene_symbol": "DPEP1",
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"dbsnp": "rs760300794",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4901394844055176,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.675,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_004413.4",
"gene_symbol": "DPEP1",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}