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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: 19-57641157-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57641157&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF211",
"hgnc_id": 13003,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001265597.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1015,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"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": "Benign",
"computational_score_selected": 0.05463245511054993,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1734,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006385.5",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Ser237Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000240731.5",
"protein_coding": true,
"protein_id": "NP_006376.2",
"strand": true,
"transcript": "NM_006385.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1734,
"cds_start": 710,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000240731.5",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Ser237Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006385.5",
"protein_coding": true,
"protein_id": "ENSP00000240731.4",
"strand": true,
"transcript": "ENST00000240731.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 567,
"aa_ref": "S",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1704,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000407202.6",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Ser227Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384436.2",
"strand": true,
"transcript": "ENST00000407202.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 564,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1695,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000347302.7",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Ser224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339562.3",
"strand": true,
"transcript": "ENST00000347302.7",
"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": 2641,
"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": "ENST00000535785.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "n.*765G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442740.1",
"strand": true,
"transcript": "ENST00000535785.1",
"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": 2759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540556.5",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "n.*869G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440793.1",
"strand": true,
"transcript": "ENST00000540556.5",
"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": 2641,
"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": "ENST00000535785.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "n.*765G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442740.1",
"strand": true,
"transcript": "ENST00000535785.1",
"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": 2759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540556.5",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "n.*869G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440793.1",
"strand": true,
"transcript": "ENST00000540556.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 690,
"aa_ref": "S",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859801.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Ser350Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529860.1",
"strand": true,
"transcript": "ENST00000859801.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 659,
"aa_ref": "S",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 1980,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948854.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Ser319Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618913.1",
"strand": true,
"transcript": "ENST00000948854.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 638,
"aa_ref": "S",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1917,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948852.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Ser298Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618911.1",
"strand": true,
"transcript": "ENST00000948852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 629,
"aa_ref": "S",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1890,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001265597.3",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252526.1",
"strand": true,
"transcript": "NM_001265597.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 629,
"aa_ref": "S",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1890,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000299871.9",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Ser289Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299871.5",
"strand": true,
"transcript": "ENST00000299871.9",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 627,
"aa_ref": "S",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1884,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322306.2",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Ser287Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309235.1",
"strand": true,
"transcript": "NM_001322306.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 627,
"aa_ref": "S",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1884,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859800.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.860G>A",
"hgvs_p": "p.Ser287Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529859.1",
"strand": true,
"transcript": "ENST00000859800.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1851,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001265598.3",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252527.1",
"strand": true,
"transcript": "NM_001265598.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 616,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1851,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000541801.5",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442601.2",
"strand": true,
"transcript": "ENST00000541801.5",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 614,
"aa_ref": "S",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3833,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1845,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948853.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Ser274Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618912.1",
"strand": true,
"transcript": "ENST00000948853.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 575,
"aa_ref": "S",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1728,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948851.1",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Ser235Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618910.1",
"strand": true,
"transcript": "ENST00000948851.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 564,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3734,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1695,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_198855.4",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Ser224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942152.1",
"strand": true,
"transcript": "NM_198855.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 555,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3739,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1668,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001265599.3",
"gene_hgnc_id": 13003,
"gene_symbol": "ZNF211",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Ser215Asn",
"intron_rank": null,
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"mane_plus": null,
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}