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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: 11-130878526-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130878526&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SNX19",
"hgnc_id": 21532,
"hgvs_c": "c.2875A>G",
"hgvs_p": "p.Ile959Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014758.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.1252,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "11",
"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": 0.10532987117767334,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 992,
"aa_ref": "I",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15691,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2875,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_014758.3",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.2875A>G",
"hgvs_p": "p.Ile959Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265909.9",
"protein_coding": true,
"protein_id": "NP_055573.3",
"strand": false,
"transcript": "NM_014758.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 992,
"aa_ref": "I",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15691,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2875,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000265909.9",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.2875A>G",
"hgvs_p": "p.Ile959Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014758.3",
"protein_coding": true,
"protein_id": "ENSP00000265909.4",
"strand": false,
"transcript": "ENST00000265909.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 232,
"aa_ref": "I",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 699,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534726.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433699.1",
"strand": false,
"transcript": "ENST00000534726.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000530330.1",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "n.611A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000530330.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 952,
"aa_ref": "I",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15571,
"cdna_start": 3295,
"cds_end": null,
"cds_length": 2859,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001347918.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.2755A>G",
"hgvs_p": "p.Ile919Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334847.2",
"strand": false,
"transcript": "NM_001347918.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 907,
"aa_ref": "H",
"aa_start": 897,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15506,
"cdna_start": 3230,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2690,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001347919.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.2690A>G",
"hgvs_p": "p.His897Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334848.2",
"strand": false,
"transcript": "NM_001347919.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 435,
"aa_ref": "I",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13733,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001347922.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Ile402Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334851.2",
"strand": false,
"transcript": "NM_001347922.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 417,
"aa_ref": "I",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13859,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1254,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001347923.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.1150A>G",
"hgvs_p": "p.Ile384Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334852.2",
"strand": false,
"transcript": "NM_001347923.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13677,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001301089.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Ile339Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288018.1",
"strand": false,
"transcript": "NM_001301089.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000528555.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Ile339Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435122.1",
"strand": false,
"transcript": "ENST00000528555.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "I",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000530356.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Ile339Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432307.1",
"strand": false,
"transcript": "ENST00000530356.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13418,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 999,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001347924.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Ile299Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334853.1",
"strand": false,
"transcript": "NM_001347924.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 314,
"aa_ref": "I",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13944,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 945,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001347925.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Ile281Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334854.1",
"strand": false,
"transcript": "NM_001347925.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 287,
"aa_ref": "H",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13492,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 864,
"cds_start": 830,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001347926.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.830A>G",
"hgvs_p": "p.His277Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334855.1",
"strand": false,
"transcript": "NM_001347926.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 232,
"aa_ref": "I",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13407,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 699,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001347927.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334856.1",
"strand": false,
"transcript": "NM_001347927.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 160,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 413,
"cds_end": null,
"cds_length": 483,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000426933.6",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.379A>G",
"hgvs_p": "p.Ile127Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413345.2",
"strand": false,
"transcript": "ENST00000426933.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 38709,
"cdna_start": null,
"cds_end": null,
"cds_length": 2643,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001347920.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "c.*23250A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334849.2",
"strand": false,
"transcript": "NM_001347920.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526579.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526579.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527116.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "n.637A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000527116.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000533318.5",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "n.1235A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533318.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 15776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_144939.2",
"gene_hgnc_id": 21532,
"gene_symbol": "SNX19",
"hgvs_c": "n.3500A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_144939.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
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"dbscsnv_ada_score": null,
"dbsnp": "rs772490435",
"effect": "missense_variant",
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"gene_symbol": "SNX19",
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.698,
"pos": 130878526,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.096,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014758.3"
}
]
}