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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: 19-5654437-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5654437&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SAFB",
"hgnc_id": 10520,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001201338.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0997,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2091740071773529,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 917,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001201338.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000588852.2",
"protein_coding": true,
"protein_id": "NP_001188267.1",
"strand": true,
"transcript": "NM_001201338.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 917,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000588852.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001201338.2",
"protein_coding": true,
"protein_id": "ENSP00000467423.1",
"strand": true,
"transcript": "ENST00000588852.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000592224.5",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464840.1",
"strand": true,
"transcript": "ENST00000592224.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 915,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000292123.9",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292123.4",
"strand": true,
"transcript": "ENST00000292123.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 961,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1974,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970177.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Thr623Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640236.1",
"strand": true,
"transcript": "ENST00000970177.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 960,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934691.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Thr623Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604750.1",
"strand": true,
"transcript": "ENST00000934691.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 959,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970185.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Thr623Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640244.1",
"strand": true,
"transcript": "ENST00000970185.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 949,
"aa_ref": "T",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000880699.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1835C>T",
"hgvs_p": "p.Thr612Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550758.1",
"strand": true,
"transcript": "ENST00000880699.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 948,
"aa_ref": "T",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1941,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970182.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1835C>T",
"hgvs_p": "p.Thr612Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640241.1",
"strand": true,
"transcript": "ENST00000970182.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001201339.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188268.1",
"strand": true,
"transcript": "NM_001201339.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934687.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604746.1",
"strand": true,
"transcript": "ENST00000934687.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970175.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640234.1",
"strand": true,
"transcript": "ENST00000970175.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 915,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002967.4",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002958.2",
"strand": true,
"transcript": "NM_002967.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 915,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970176.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640235.1",
"strand": true,
"transcript": "ENST00000970176.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001320572.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307501.1",
"strand": true,
"transcript": "NM_001320572.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880693.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550752.1",
"strand": true,
"transcript": "ENST00000880693.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934690.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604749.1",
"strand": true,
"transcript": "ENST00000934690.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 914,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970178.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640237.1",
"strand": true,
"transcript": "ENST00000970178.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 914,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970188.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640247.1",
"strand": true,
"transcript": "ENST00000970188.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 913,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970173.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640232.1",
"strand": true,
"transcript": "ENST00000970173.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 909,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970187.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.654,
"pos": 5654437,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.111,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001201338.2"
}
]
}