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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: 19-44477006-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44477006&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF180",
"hgnc_id": 12970,
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_013256.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48992717266082764,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001278509.3",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592529.6",
"protein_coding": true,
"protein_id": "NP_001265438.2",
"strand": false,
"transcript": "NM_001278509.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 1685,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000592529.6",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278509.3",
"protein_coding": true,
"protein_id": "ENSP00000468021.1",
"strand": false,
"transcript": "ENST00000592529.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 692,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7806,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000221327.9",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000221327.3",
"strand": false,
"transcript": "ENST00000221327.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590088.5",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "n.*1282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468523.1",
"strand": false,
"transcript": "ENST00000590088.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592095.5",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "n.*1486C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466516.1",
"strand": false,
"transcript": "ENST00000592095.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590088.5",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "n.*1282C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468523.1",
"strand": false,
"transcript": "ENST00000590088.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592095.5",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "n.*1486C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466516.1",
"strand": false,
"transcript": "ENST00000592095.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 692,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4332,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_013256.7",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037388.3",
"strand": false,
"transcript": "NM_013256.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 691,
"aa_ref": "P",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288759.4",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Pro491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275688.2",
"strand": false,
"transcript": "NM_001288759.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1400,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278508.4",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Pro467Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265437.2",
"strand": false,
"transcript": "NM_001278508.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1400,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391956.8",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1400C>T",
"hgvs_p": "p.Pro467Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375818.3",
"strand": false,
"transcript": "ENST00000391956.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001291633.2",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278562.1",
"strand": false,
"transcript": "NM_001291633.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911258.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581317.1",
"strand": false,
"transcript": "ENST00000911258.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911260.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581319.1",
"strand": false,
"transcript": "ENST00000911260.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5486,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940757.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610816.1",
"strand": false,
"transcript": "ENST00000940757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940758.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610817.1",
"strand": false,
"transcript": "ENST00000940758.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 3269,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940759.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610818.1",
"strand": false,
"transcript": "ENST00000940759.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 665,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940760.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610819.1",
"strand": false,
"transcript": "ENST00000940760.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911257.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581316.1",
"strand": false,
"transcript": "ENST00000911257.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911259.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581318.1",
"strand": false,
"transcript": "ENST00000911259.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "P",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911254.1",
"gene_hgnc_id": 12970,
"gene_symbol": "ZNF180",
"hgvs_c": "c.1319C>T",
"hgvs_p": "p.Pro440Leu",
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}