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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: 6-160741402-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160741402&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 160741402,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000301.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2114delG",
"hgvs_p": "p.Gly705fs",
"transcript": "NM_000301.5",
"protein_id": "NP_000292.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 810,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": "ENST00000308192.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000301.5"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2114delG",
"hgvs_p": "p.Gly705fs",
"transcript": "ENST00000308192.14",
"protein_id": "ENSP00000308938.9",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 810,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": "NM_000301.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308192.14"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2435delG",
"hgvs_p": "p.Gly812fs",
"transcript": "ENST00000872438.1",
"protein_id": "ENSP00000542497.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 917,
"cds_start": 2435,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872438.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2222delG",
"hgvs_p": "p.Gly741fs",
"transcript": "ENST00000872435.1",
"protein_id": "ENSP00000542494.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 846,
"cds_start": 2222,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872435.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2165delG",
"hgvs_p": "p.Gly722fs",
"transcript": "ENST00000418964.2",
"protein_id": "ENSP00000389424.2",
"transcript_support_level": 4,
"aa_start": 722,
"aa_end": null,
"aa_length": 827,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418964.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2114delG",
"hgvs_p": "p.Gly705fs",
"transcript": "ENST00000872429.1",
"protein_id": "ENSP00000542488.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 820,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872429.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2144delG",
"hgvs_p": "p.Gly715fs",
"transcript": "ENST00000872440.1",
"protein_id": "ENSP00000542499.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 820,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872440.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2111delG",
"hgvs_p": "p.Gly704fs",
"transcript": "ENST00000957675.1",
"protein_id": "ENSP00000627734.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 809,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957675.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2105delG",
"hgvs_p": "p.Gly702fs",
"transcript": "ENST00000872434.1",
"protein_id": "ENSP00000542493.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 807,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872434.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2102delG",
"hgvs_p": "p.Gly701fs",
"transcript": "ENST00000872431.1",
"protein_id": "ENSP00000542490.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 806,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872431.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2096delG",
"hgvs_p": "p.Gly699fs",
"transcript": "ENST00000872439.1",
"protein_id": "ENSP00000542498.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 804,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872439.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.2039delG",
"hgvs_p": "p.Gly680fs",
"transcript": "ENST00000872432.1",
"protein_id": "ENSP00000542491.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 785,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872432.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1973delG",
"hgvs_p": "p.Gly658fs",
"transcript": "ENST00000872428.1",
"protein_id": "ENSP00000542487.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 763,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872428.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1898delG",
"hgvs_p": "p.Gly633fs",
"transcript": "ENST00000872433.1",
"protein_id": "ENSP00000542492.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 738,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872433.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1874delG",
"hgvs_p": "p.Gly625fs",
"transcript": "ENST00000872436.1",
"protein_id": "ENSP00000542495.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 730,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872436.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1871delG",
"hgvs_p": "p.Gly624fs",
"transcript": "ENST00000872437.1",
"protein_id": "ENSP00000542496.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 729,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872437.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1067delG",
"hgvs_p": "p.Gly356fs",
"transcript": "ENST00000297289.9",
"protein_id": "ENSP00000516619.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 461,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297289.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "c.1681+7318delG",
"hgvs_p": null,
"transcript": "ENST00000872430.1",
"protein_id": "ENSP00000542489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.415delG",
"hgvs_p": null,
"transcript": "ENST00000467466.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.*2134delG",
"hgvs_p": null,
"transcript": "ENST00000706906.1",
"protein_id": "ENSP00000516618.1",
"transcript_support_level": null,
"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": 5213,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.*2134delG",
"hgvs_p": null,
"transcript": "ENST00000706906.1",
"protein_id": "ENSP00000516618.1",
"transcript_support_level": null,
"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": 5213,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"hgvs_c": "n.99+38delG",
"hgvs_p": null,
"transcript": "ENST00000461414.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461414.2"
}
],
"gene_symbol": "PLG",
"gene_hgnc_id": 9071,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.86422e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.154,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_000301.5",
"gene_symbol": "PLG",
"hgnc_id": 9071,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2114delG",
"hgvs_p": "p.Gly705fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}