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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: 2-232335802-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232335802&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232335802,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_152383.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2424G>A",
"hgvs_p": "p.Gln808Gln",
"transcript": "NM_152383.5",
"protein_id": "NP_689596.4",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 885,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": "ENST00000325385.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152383.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2424G>A",
"hgvs_p": "p.Gln808Gln",
"transcript": "ENST00000325385.12",
"protein_id": "ENSP00000315569.7",
"transcript_support_level": 5,
"aa_start": 808,
"aa_end": null,
"aa_length": 885,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": "NM_152383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325385.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*491G>A",
"hgvs_p": null,
"transcript": "ENST00000390005.9",
"protein_id": "ENSP00000374655.5",
"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": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000390005.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*1580G>A",
"hgvs_p": null,
"transcript": "ENST00000445090.5",
"protein_id": "ENSP00000388999.1",
"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": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445090.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*491G>A",
"hgvs_p": null,
"transcript": "ENST00000390005.9",
"protein_id": "ENSP00000374655.5",
"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": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000390005.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*1580G>A",
"hgvs_p": null,
"transcript": "ENST00000445090.5",
"protein_id": "ENSP00000388999.1",
"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": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445090.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2448G>A",
"hgvs_p": "p.Gln816Gln",
"transcript": "ENST00000869867.1",
"protein_id": "ENSP00000539926.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 893,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869867.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2424G>A",
"hgvs_p": "p.Gln808Gln",
"transcript": "ENST00000869868.1",
"protein_id": "ENSP00000539927.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 885,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869868.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2424G>A",
"hgvs_p": "p.Gln808Gln",
"transcript": "ENST00000941576.1",
"protein_id": "ENSP00000611635.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 885,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 3531,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941576.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2190G>A",
"hgvs_p": "p.Gln730Gln",
"transcript": "ENST00000869869.1",
"protein_id": "ENSP00000539928.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 807,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869869.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.2172G>A",
"hgvs_p": "p.Gln724Gln",
"transcript": "ENST00000922476.1",
"protein_id": "ENSP00000592535.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 801,
"cds_start": 2172,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922476.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.1428G>A",
"hgvs_p": "p.Gln476Gln",
"transcript": "ENST00000922475.1",
"protein_id": "ENSP00000592534.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 553,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922475.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Gln103Gln",
"transcript": "ENST00000434477.5",
"protein_id": "ENSP00000392754.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 195,
"cds_start": 309,
"cds_end": null,
"cds_length": 588,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434477.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.105G>A",
"hgvs_p": "p.Gln35Gln",
"transcript": "ENST00000418143.1",
"protein_id": "ENSP00000401700.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 165,
"cds_start": 105,
"cds_end": null,
"cds_length": 498,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418143.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Gln6Gln",
"transcript": "ENST00000417808.1",
"protein_id": "ENSP00000408764.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 68,
"cds_start": 18,
"cds_end": null,
"cds_length": 207,
"cdna_start": 18,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417808.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.1582-7543G>A",
"hgvs_p": null,
"transcript": "NM_001257281.2",
"protein_id": "NP_001244210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": null,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257281.2"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "c.1582-7543G>A",
"hgvs_p": null,
"transcript": "ENST00000273009.10",
"protein_id": "ENSP00000273009.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": null,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273009.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.3158G>A",
"hgvs_p": null,
"transcript": "ENST00000429283.2",
"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": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000429283.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*2764G>A",
"hgvs_p": null,
"transcript": "ENST00000433430.5",
"protein_id": "ENSP00000391175.1",
"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": 4671,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433430.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.2497G>A",
"hgvs_p": null,
"transcript": "NR_046476.2",
"protein_id": null,
"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": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046476.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.2476G>A",
"hgvs_p": null,
"transcript": "NR_046477.2",
"protein_id": null,
"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": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046477.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"hgvs_c": "n.*2764G>A",
"hgvs_p": null,
"transcript": "ENST00000433430.5",
"protein_id": "ENSP00000391175.1",
"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": 4671,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000433430.5"
}
],
"gene_symbol": "DIS3L2",
"gene_hgnc_id": 28648,
"dbsnp": "rs369113667",
"frequency_reference_population": 0.0001999056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 310,
"gnomad_exomes_af": 0.000204526,
"gnomad_genomes_af": 0.000157507,
"gnomad_exomes_ac": 286,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.421999990940094,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.763,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_152383.5",
"gene_symbol": "DIS3L2",
"hgnc_id": 28648,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2424G>A",
"hgvs_p": "p.Gln808Gln"
}
],
"clinvar_disease": "Perlman syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Perlman syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}