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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: 21-44886386-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44886386&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44886386,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000211.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "NM_000211.5",
"protein_id": "NP_000202.3",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652462.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000211.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000652462.1",
"protein_id": "ENSP00000498780.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000211.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652462.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Pro788Pro",
"transcript": "ENST00000302347.10",
"protein_id": "ENSP00000303242.6",
"transcript_support_level": 1,
"aa_start": 788,
"aa_end": null,
"aa_length": 793,
"cds_start": 2364,
"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": "ENST00000302347.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000397852.5",
"protein_id": "ENSP00000380950.1",
"transcript_support_level": 1,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397852.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2121C>T",
"hgvs_p": "p.Pro707Pro",
"transcript": "ENST00000397854.7",
"protein_id": "ENSP00000380952.3",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 712,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397854.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.4348C>T",
"hgvs_p": null,
"transcript": "ENST00000498666.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000498666.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "NM_001127491.3",
"protein_id": "NP_001120963.2",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127491.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000355153.8",
"protein_id": "ENSP00000347279.4",
"transcript_support_level": 2,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355153.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000397850.6",
"protein_id": "ENSP00000380948.2",
"transcript_support_level": 5,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397850.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000397857.5",
"protein_id": "ENSP00000380955.1",
"transcript_support_level": 5,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397857.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909411.1",
"protein_id": "ENSP00000579470.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909411.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909413.1",
"protein_id": "ENSP00000579472.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909413.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909414.1",
"protein_id": "ENSP00000579473.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909414.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909415.1",
"protein_id": "ENSP00000579474.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909415.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909416.1",
"protein_id": "ENSP00000579475.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909416.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909417.1",
"protein_id": "ENSP00000579476.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909417.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909418.1",
"protein_id": "ENSP00000579477.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909418.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909419.1",
"protein_id": "ENSP00000579478.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909419.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909420.1",
"protein_id": "ENSP00000579479.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909420.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000909421.1",
"protein_id": "ENSP00000579480.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909421.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000961802.1",
"protein_id": "ENSP00000631861.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961802.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.Pro764Pro",
"transcript": "ENST00000961803.1",
"protein_id": "ENSP00000631862.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 769,
"cds_start": 2292,
"cds_end": null,
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"cdna_start": null,
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{
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{
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{
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],
"gene_symbol": "ITGB2",
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"dbsnp": "rs1350166836",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 2,
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"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.134,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000211.5",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}