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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: 19-5667105-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5667105&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5667105,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001201338.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2394G>T",
"hgvs_p": "p.Trp798Cys",
"transcript": "NM_001201338.2",
"protein_id": "NP_001188267.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 917,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000588852.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201338.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2394G>T",
"hgvs_p": "p.Trp798Cys",
"transcript": "ENST00000588852.2",
"protein_id": "ENSP00000467423.1",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 917,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001201338.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588852.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000592224.5",
"protein_id": "ENSP00000464840.1",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 916,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592224.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2394G>T",
"hgvs_p": "p.Trp798Cys",
"transcript": "ENST00000292123.9",
"protein_id": "ENSP00000292123.4",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 915,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292123.9"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2526G>T",
"hgvs_p": "p.Trp842Cys",
"transcript": "ENST00000970177.1",
"protein_id": "ENSP00000640236.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 961,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970177.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2523G>T",
"hgvs_p": "p.Trp841Cys",
"transcript": "ENST00000934691.1",
"protein_id": "ENSP00000604750.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 960,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934691.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2526G>T",
"hgvs_p": "p.Trp842Cys",
"transcript": "ENST00000970185.1",
"protein_id": "ENSP00000640244.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 959,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970185.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2490G>T",
"hgvs_p": "p.Trp830Cys",
"transcript": "ENST00000880699.1",
"protein_id": "ENSP00000550758.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 949,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880699.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2493G>T",
"hgvs_p": "p.Trp831Cys",
"transcript": "ENST00000970182.1",
"protein_id": "ENSP00000640241.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 948,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970182.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "NM_001201339.2",
"protein_id": "NP_001188268.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 916,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201339.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000934687.1",
"protein_id": "ENSP00000604746.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 916,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934687.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000970175.1",
"protein_id": "ENSP00000640234.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 916,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970175.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2394G>T",
"hgvs_p": "p.Trp798Cys",
"transcript": "NM_002967.4",
"protein_id": "NP_002958.2",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 915,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002967.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2388G>T",
"hgvs_p": "p.Trp796Cys",
"transcript": "ENST00000970176.1",
"protein_id": "ENSP00000640235.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 915,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970176.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "NM_001320572.2",
"protein_id": "NP_001307501.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 914,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320572.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000880693.1",
"protein_id": "ENSP00000550752.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 914,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880693.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000934690.1",
"protein_id": "ENSP00000604749.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 914,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934690.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000970178.1",
"protein_id": "ENSP00000640237.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 914,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970178.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2391G>T",
"hgvs_p": "p.Trp797Cys",
"transcript": "ENST00000970188.1",
"protein_id": "ENSP00000640247.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 914,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970188.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2388G>T",
"hgvs_p": "p.Trp796Cys",
"transcript": "ENST00000970173.1",
"protein_id": "ENSP00000640232.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 913,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970173.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2376G>T",
"hgvs_p": "p.Trp792Cys",
"transcript": "ENST00000970187.1",
"protein_id": "ENSP00000640246.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 909,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970187.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"hgvs_c": "c.2361G>T",
"hgvs_p": "p.Trp787Cys",
"transcript": "ENST00000970180.1",
"protein_id": "ENSP00000640239.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 906,
"cds_start": 2361,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589863.5"
}
],
"gene_symbol": "SAFB",
"gene_hgnc_id": 10520,
"dbsnp": "rs200429675",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136934,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7374890446662903,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.012,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001201338.2",
"gene_symbol": "SAFB",
"hgnc_id": 10520,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2394G>T",
"hgvs_p": "p.Trp798Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}